Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504838_136504842delinsTTTGAGGGATC , CM000671.2:g.136504838_136504842delinsTTTGAGGGATC	GRCh38
NC_000009.11:g.139399290_139399294delinsTTTGAGGGATC , CM000671.1:g.139399290_139399294delinsTTTGAGGGATC	GRCh37
NC_000009.10:g.138519111_138519115delinsTTTGAGGGATC	NCBI36
NG_007458.1:g.45945_45949delinsGATCCCTCAAA

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4849_4853delinsGATCCCTCAAA MANE Select	NP_060087.3:p.Phe1617_Pro1618delinsAspProSerAsn
ENST00000651671.1:c.4849_4853delinsGATCCCTCAAA MANE Select	ENSP00000498587.1:p.Phe1617_Pro1618delinsAspProSerAsn
NM_017617.3:c.4849_4853delinsGATCCCTCAAA	NP_060087.3:p.Phe1617_Pro1618delinsAspProSerAsn
ENST00000277541.6:c.4849_4853delinsGATCCCTCAAA	ENSP00000277541.6:p.Phe1617_Pro1618delinsAspProSerAsn
ENST00000494783.1:n.4_8delinsGATCCCTCAAA
ENST00000645828.1:n.2656_2660delinsGATCCCTCAAA
ENST00000679595.1:c.4849_4853delinsGATCCCTCAAA	ENSP00000506241.1:p.Phe1617_Pro1618delinsAspProSerAsn
ENST00000680133.1:c.4735_4739delinsGATCCCTCAAA	ENSP00000505319.1:p.Phe1579_Pro1580delinsAspProSerAsn
ENST00000680218.1:c.4729_4733delinsGATCCCTCAAA	ENSP00000505339.1:p.Phe1577_Pro1578delinsAspProSerAsn
ENST00000680668.1:c.4735_4739delinsGATCCCTCAAA	ENSP00000506336.1:p.Phe1579_Pro1580delinsAspProSerAsn
ENST00000680778.1:c.2446_2450delinsGATCCCTCAAA	ENSP00000506033.1:p.Phe816_Pro817delinsAspProSerAsn
ENST00000680924.1:c.2249_2253delinsGATCCCTCAAA	ENSP00000506031.1:n.2249_2253delinsGATCCCTCAAA
ENST00000681135.1:c.2458_2462delinsGATCCCTCAAA	ENSP00000506636.1:n.2458_2462delinsGATCCCTCAAA
ENST00000681298.1:n.1662_1666delinsGATCCCTCAAA
ENST00000681454.1:c.4085_4089delinsGATCCCTCAAA	ENSP00000505763.1:n.4085_4089delinsGATCCCTCAAA
XM_011518717.1:c.4150_4154delinsGATCCCTCAAA	XP_011517019.1:p.Phe1384_Pro1385delinsAspProSerAsn
XM_011518717.2:c.4126_4130delinsGATCCCTCAAA	XP_011517019.2:p.Phe1376_Pro1377delinsAspProSerAsn