Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504838_136504844delinsTTTGAGGGATCGC , CM000671.2:g.136504838_136504844delinsTTTGAGGGATCGC	GRCh38
NC_000009.11:g.139399290_139399296delinsTTTGAGGGATCGC , CM000671.1:g.139399290_139399296delinsTTTGAGGGATCGC	GRCh37
NC_000009.10:g.138519111_138519117delinsTTTGAGGGATCGC	NCBI36
NG_007458.1:g.45943_45949delinsGCGATCCCTCAAA

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4847_4853delinsGCGATCCCTCAAA MANE Select	NP_060087.3:p.Ile1616_Pro1618delinsSerAspProSerAsn
ENST00000651671.1:c.4847_4853delinsGCGATCCCTCAAA MANE Select	ENSP00000498587.1:p.Ile1616_Pro1618delinsSerAspProSerAsn
NM_017617.3:c.4847_4853delinsGCGATCCCTCAAA	NP_060087.3:p.Ile1616_Pro1618delinsSerAspProSerAsn
ENST00000277541.6:c.4847_4853delinsGCGATCCCTCAAA	ENSP00000277541.6:p.Ile1616_Pro1618delinsSerAspProSerAsn
ENST00000494783.1:n.2_8delinsGCGATCCCTCAAA
ENST00000645828.1:n.2654_2660delinsGCGATCCCTCAAA
ENST00000679595.1:c.4847_4853delinsGCGATCCCTCAAA	ENSP00000506241.1:p.Ile1616_Pro1618delinsSerAspProSerAsn
ENST00000680133.1:c.4733_4739delinsGCGATCCCTCAAA	ENSP00000505319.1:p.Ile1578_Pro1580delinsSerAspProSerAsn
ENST00000680218.1:c.4727_4733delinsGCGATCCCTCAAA	ENSP00000505339.1:p.Ile1576_Pro1578delinsSerAspProSerAsn
ENST00000680668.1:c.4733_4739delinsGCGATCCCTCAAA	ENSP00000506336.1:p.Ile1578_Pro1580delinsSerAspProSerAsn
ENST00000680778.1:c.2444_2450delinsGCGATCCCTCAAA	ENSP00000506033.1:p.Ile815_Pro817delinsSerAspProSerAsn
ENST00000680924.1:c.2247_2253delinsGCGATCCCTCAAA	ENSP00000506031.1:n.2247_2253delinsGCGATCCCTCAAA
ENST00000681135.1:c.2456_2462delinsGCGATCCCTCAAA	ENSP00000506636.1:n.2456_2462delinsGCGATCCCTCAAA
ENST00000681298.1:n.1660_1666delinsGCGATCCCTCAAA
ENST00000681454.1:c.4083_4089delinsGCGATCCCTCAAA	ENSP00000505763.1:n.4083_4089delinsGCGATCCCTCAAA
XM_011518717.1:c.4148_4154delinsGCGATCCCTCAAA	XP_011517019.1:p.Ile1383_Pro1385delinsSerAspProSerAsn
XM_011518717.2:c.4124_4130delinsGCGATCCCTCAAA	XP_011517019.2:p.Ile1375_Pro1377delinsSerAspProSerAsn