Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621491_23621492delinsCA , CM000678.2:g.23621491_23621492delinsCA	GRCh38
NC_000016.9:g.23632812_23632813delinsCA , CM000678.1:g.23632812_23632813delinsCA	GRCh37
NC_000016.8:g.23540313_23540314delinsCA	NCBI36
NG_007406.1:g.24866_24867delinsTG , LRG_308:g.24866_24867delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3003-14_3003-13delinsTG	ENSP00000460666.3:n.3003-14_3003-13delinsTG
ENST00000565038.2:c.478-14_478-13delinsTG	ENSP00000459882.2:n.478-14_478-13delinsTG
ENST00000566069.6:c.2997-14_2997-13delinsTG	ENSP00000459237.2:n.2997-14_2997-13delinsTG
ENST00000697377.2:c.2841-14_2841-13delinsTG	ENSP00000513286.2:n.2841-14_2841-13delinsTG
ENST00000697379.2:c.3003-14_3003-13delinsTG	ENSP00000513287.2:n.3003-14_3003-13delinsTG
ENST00000561514.2:c.2112-14_2112-13delinsTG	ENSP00000460666.2:n.2112-14_2112-13delinsTG
ENST00000697374.1:c.2112-14_2112-13delinsTG	ENSP00000513284.1:n.2112-14_2112-13delinsTG
ENST00000697375.1:n.4344-14_4344-13delinsTG
ENST00000697376.1:c.2112-14_2112-13delinsTG	ENSP00000513285.1:n.2112-14_2112-13delinsTG
ENST00000697377.1:c.1950-14_1950-13delinsTG	ENSP00000513286.1:n.1950-14_1950-13delinsTG
ENST00000697378.1:n.3517-14_3517-13delinsTG
ENST00000697379.1:c.2112-14_2112-13delinsTG	ENSP00000513287.1:n.2112-14_2112-13delinsTG
ENST00000697380.1:n.2289-14_2289-13delinsTG
ENST00000697381.1:n.1692-14_1692-13delinsTG
ENST00000697382.1:c.2112-14_2112-13delinsTG	ENSP00000513288.1:n.2112-14_2112-13delinsTG
ENST00000697383.1:c.531-14_531-13delinsTG	ENSP00000513289.1:n.531-14_531-13delinsTG
ENST00000261584.9:c.2997-14_2997-13delinsTG MANE Select	ENSP00000261584.4:n.2997-14_2997-13delinsTG
ENST00000261584.8:c.2997-14_2997-13delinsTG	ENSP00000261584.4:n.2997-14_2997-13delinsTG
ENST00000568219.5:c.2112-14_2112-13delinsTG	ENSP00000454703.2:n.2112-14_2112-13delinsTG
NM_024675.3:c.2997-14_2997-13delinsTG , LRG_308t1:c.2997-14_2997-13delinsTG	NP_078951.2:n.2997-14_2997-13delinsTG
XM_011545946.1:c.3003-14_3003-13delinsTG	XP_011544248.1:n.3003-14_3003-13delinsTG
XM_011545947.1:c.3003-14_3003-13delinsTG	XP_011544249.1:n.3003-14_3003-13delinsTG
XM_011545948.1:c.2112-14_2112-13delinsTG	XP_011544250.1:n.2112-14_2112-13delinsTG
XR_950851.1:n.3793-14_3793-13delinsTG
XM_011545946.2:c.3003-14_3003-13delinsTG	XP_011544248.1:n.3003-14_3003-13delinsTG
XM_011545947.2:c.3003-14_3003-13delinsTG	XP_011544249.1:n.3003-14_3003-13delinsTG
XM_011545948.2:c.2112-14_2112-13delinsTG	XP_011544250.1:n.2112-14_2112-13delinsTG
XM_017023671.1:c.3003-14_3003-13delinsTG	XP_016879160.1:n.3003-14_3003-13delinsTG
XM_017023672.2:c.2997-14_2997-13delinsTG	XP_016879161.1:n.2997-14_2997-13delinsTG
XM_017023673.2:c.2997-14_2997-13delinsTG	XP_016879162.1:n.2997-14_2997-13delinsTG
NM_024675.4:c.2997-14_2997-13delinsTG MANE Select	NP_078951.2:n.2997-14_2997-13delinsTG