Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465657_154465658insTTCTCTTC , CM000663.2:g.154465657_154465658insTTCTCTTC	GRCh38
NC_000001.10:g.154438133_154438134insTTCTCTTC , CM000663.1:g.154438133_154438134insTTCTCTTC	GRCh37
NC_000001.9:g.152704757_152704758insTTCTCTTC	NCBI36
NG_012087.1:g.65465_65466insTTCTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.277_278insTTCTCTTC MANE Select	ENSP00000357470.3:n.277_278insTTCTCTTC
ENST00000344086.8:c.492_493insTTCTCTTC	ENSP00000340589.4:n.492_493insTTCTCTTC
ENST00000368485.7:c.277_278insTTCTCTTC	ENSP00000357470.3:n.277_278insTTCTCTTC
NM_000565.3:c.277_278insTTCTCTTC	NP_000556.1:n.277_278insTTCTCTTC
NM_181359.2:c.492_493insTTCTCTTC	NP_852004.1:n.492_493insTTCTCTTC
XM_005245139.1:c.365_366insTTCTCTTC	XP_005245196.1:n.365_366insTTCTCTTC
XM_005245140.1:c.525_526insTTCTCTTC	XP_005245197.1:n.525_526insTTCTCTTC
XM_006711298.1:c.277_278insTTCTCTTC	XP_006711361.1:n.277_278insTTCTCTTC
XM_005245139.2:c.365_366insTTCTCTTC	XP_005245196.1:n.365_366insTTCTCTTC
XM_005245140.3:c.525_526insTTCTCTTC	XP_005245197.1:n.525_526insTTCTCTTC
XM_006711298.2:c.277_278insTTCTCTTC	XP_006711361.1:n.277_278insTTCTCTTC
XM_017001199.2:c.277_278insTTCTCTTC	XP_016856688.1:n.277_278insTTCTCTTC
XM_017001200.2:c.277_278insTTCTCTTC	XP_016856689.1:n.277_278insTTCTCTTC
XM_017001201.2:c.525_526insTTCTCTTC	XP_016856690.1:n.525_526insTTCTCTTC
NM_000565.4:c.277_278insTTCTCTTC MANE Select	NP_000556.1:n.277_278insTTCTCTTC
NM_181359.3:c.492_493insTTCTCTTC	NP_852004.1:n.492_493insTTCTCTTC
NM_001382769.1:c.277_278insTTCTCTTC	NP_001369698.1:n.277_278insTTCTCTTC
NM_001382770.1:c.277_278insTTCTCTTC	NP_001369699.1:n.277_278insTTCTCTTC
NM_001382771.1:c.277_278insTTCTCTTC	NP_001369700.1:n.277_278insTTCTCTTC
NM_001382772.1:c.277_278insTTCTCTTC	NP_001369701.1:n.277_278insTTCTCTTC
NM_001382773.1:c.492_493insTTCTCTTC	NP_001369702.1:n.492_493insTTCTCTTC
NM_001382774.1:c.277_278insTTCTCTTC	NP_001369703.1:n.277_278insTTCTCTTC

HGVS	Amino-acid Change
ENST00000368485.8:c.277_278insTTCTCTTC MANE Select	ENSP00000357470.3:n.277_278insTTCTCTTC
ENST00000344086.8:c.492_493insTTCTCTTC	ENSP00000340589.4:n.492_493insTTCTCTTC
ENST00000368485.7:c.277_278insTTCTCTTC	ENSP00000357470.3:n.277_278insTTCTCTTC
NM_000565.3:c.277_278insTTCTCTTC	NP_000556.1:n.277_278insTTCTCTTC
NM_181359.2:c.492_493insTTCTCTTC	NP_852004.1:n.492_493insTTCTCTTC
XM_005245139.1:c.365_366insTTCTCTTC	XP_005245196.1:n.365_366insTTCTCTTC
XM_005245140.1:c.525_526insTTCTCTTC	XP_005245197.1:n.525_526insTTCTCTTC
XM_006711298.1:c.277_278insTTCTCTTC	XP_006711361.1:n.277_278insTTCTCTTC
XM_005245139.2:c.365_366insTTCTCTTC	XP_005245196.1:n.365_366insTTCTCTTC
XM_005245140.3:c.525_526insTTCTCTTC	XP_005245197.1:n.525_526insTTCTCTTC
XM_006711298.2:c.277_278insTTCTCTTC	XP_006711361.1:n.277_278insTTCTCTTC
XM_017001199.2:c.277_278insTTCTCTTC	XP_016856688.1:n.277_278insTTCTCTTC
XM_017001200.2:c.277_278insTTCTCTTC	XP_016856689.1:n.277_278insTTCTCTTC
XM_017001201.2:c.525_526insTTCTCTTC	XP_016856690.1:n.525_526insTTCTCTTC
NM_000565.4:c.277_278insTTCTCTTC MANE Select	NP_000556.1:n.277_278insTTCTCTTC
NM_181359.3:c.492_493insTTCTCTTC	NP_852004.1:n.492_493insTTCTCTTC
NM_001382769.1:c.277_278insTTCTCTTC	NP_001369698.1:n.277_278insTTCTCTTC
NM_001382770.1:c.277_278insTTCTCTTC	NP_001369699.1:n.277_278insTTCTCTTC
NM_001382771.1:c.277_278insTTCTCTTC	NP_001369700.1:n.277_278insTTCTCTTC
NM_001382772.1:c.277_278insTTCTCTTC	NP_001369701.1:n.277_278insTTCTCTTC
NM_001382773.1:c.492_493insTTCTCTTC	NP_001369702.1:n.492_493insTTCTCTTC
NM_001382774.1:c.277_278insTTCTCTTC	NP_001369703.1:n.277_278insTTCTCTTC