Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894536_102894537insAAGATAGCTATTTCTTTTTTCTTTTTTTTTTTTTACTTTATAAGCTTTTAATTTTTATTTATTTT , CM000674.2:g.102894536_102894537insAAGATAGCTATTTCTTTTTTCTTTTTTTTTTTTTACTTTATAAGCTTTTAATTTTTATTTATTTT	GRCh38
NC_000012.11:g.103288314_103288315insAAGATAGCTATTTCTTTTTTCTTTTTTTTTTTTTACTTTATAAGCTTTTAATTTTTATTTATTTT , CM000674.1:g.103288314_103288315insAAGATAGCTATTTCTTTTTTCTTTTTTTTTTTTTACTTTATAAGCTTTTAATTTTTATTTATTTT	GRCh37
NC_000012.10:g.101812444_101812445insAAGATAGCTATTTCTTTTTTCTTTTTTTTTTTTTACTTTATAAGCTTTTAATTTTTATTTATTTT	NCBI36
NG_008690.1:g.28066_28067insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT
NG_008690.2:g.68874_68875insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT MANE Select	ENSP00000448059.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCT...
ENST00000307000.7:c.337+198_337+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	ENSP00000303500.2:n.337+198_337+199insAAAATAAATAAAAATTAAAAGCT...
ENST00000548928.1:n.274+198_274+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT
ENST00000549111.5:n.448+198_448+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT
ENST00000550978.6:c.336+198_336+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT
ENST00000551337.5:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	ENSP00000447620.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCT...
ENST00000551988.5:n.441+198_441+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT
ENST00000553106.5:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	ENSP00000448059.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCT...
NM_000277.1:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	NP_000268.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAA...
XM_011538422.1:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	XP_011536724.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTAT...
NM_000277.2:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	NP_000268.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAA...
NM_001354304.1:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	NP_001341233.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTAT...
XM_017019370.2:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	XP_016874859.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTAT...
NM_000277.3:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT MANE Select	NP_000268.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAA...
NM_001354304.2:c.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTATAAAGTAAAAAAAAAAAAAGAAAAAAGAAATAGCTATCTT	NP_001341233.1:n.352+198_352+199insAAAATAAATAAAAATTAAAAGCTTAT...