Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27364272_27364273insG , CM000678.2:g.27364272_27364273insG	GRCh38
NC_000016.9:g.27375593_27375594insG , CM000678.1:g.27375593_27375594insG	GRCh37
NC_000016.8:g.27283094_27283095insG	NCBI36
NG_012086.1:g.55343_55344insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.442_443insG MANE Select	ENSP00000379111.2:n.442_443insG
ENST00000170630.6:c.2875_2876insG	ENSP00000170630.3:n.2875_2876insG
ENST00000395762.6:c.442_443insG	ENSP00000379111.2:n.442_443insG
ENST00000543915.6:c.442_443insG	ENSP00000441667.2:n.442_443insG
ENST00000565352.1:c.399_400insG	ENSP00000461268.1:p.Ter134ValextTer8
NM_000418.3:c.442_443insG	NP_000409.1:n.442_443insG
NM_001257406.1:c.442_443insG	NP_001244335.1:n.442_443insG
NM_001257407.1:c.442_443insG	NP_001244336.1:n.442_443insG
NM_001257997.1:c.442_443insG	NP_001244926.1:n.442_443insG
XM_005255308.2:c.442_443insG	XP_005255365.1:n.442_443insG
XM_006721043.1:c.442_443insG	XP_006721106.1:n.442_443insG
XM_011545825.1:c.442_443insG	XP_011544127.1:n.442_443insG
XM_011545826.1:c.442_443insG	XP_011544128.1:n.442_443insG
XM_011545827.1:c.442_443insG	XP_011544129.1:n.442_443insG
XM_011545828.1:c.442_443insG	XP_011544130.1:n.442_443insG
XM_011545829.1:c.442_443insG	XP_011544131.1:n.442_443insG
XM_011545830.1:c.442_443insG	XP_011544132.1:n.442_443insG
XM_011545831.1:c.442_443insG	XP_011544133.1:n.442_443insG
XM_011545832.1:c.442_443insG	XP_011544134.1:n.442_443insG
XM_011545833.1:c.442_443insG	XP_011544135.1:n.442_443insG
XM_011545834.1:c.442_443insG	XP_011544136.1:n.442_443insG
XM_011545826.2:c.442_443insG	XP_011544128.1:n.442_443insG
XM_011545827.2:c.442_443insG	XP_011544129.1:n.442_443insG
XM_011545828.2:c.442_443insG	XP_011544130.1:n.442_443insG
XM_011545830.2:c.442_443insG	XP_011544132.1:n.442_443insG
XM_011545833.2:c.442_443insG	XP_011544135.1:n.442_443insG
XM_011545834.2:c.442_443insG	XP_011544136.1:n.442_443insG
NM_000418.4:c.442_443insG MANE Select	NP_000409.1:n.442_443insG
NM_001257406.2:c.442_443insG	NP_001244335.1:n.442_443insG
NM_001257407.2:c.442_443insG	NP_001244336.1:n.442_443insG
NM_001257997.2:c.442_443insG	NP_001244926.1:n.442_443insG

HGVS	Amino-acid Change
ENST00000395762.7:c.442_443insG MANE Select	ENSP00000379111.2:n.442_443insG
ENST00000170630.6:c.2875_2876insG	ENSP00000170630.3:n.2875_2876insG
ENST00000395762.6:c.442_443insG	ENSP00000379111.2:n.442_443insG
ENST00000543915.6:c.442_443insG	ENSP00000441667.2:n.442_443insG
ENST00000565352.1:c.399_400insG	ENSP00000461268.1:p.Ter134ValextTer8
NM_000418.3:c.442_443insG	NP_000409.1:n.442_443insG
NM_001257406.1:c.442_443insG	NP_001244335.1:n.442_443insG
NM_001257407.1:c.442_443insG	NP_001244336.1:n.442_443insG
NM_001257997.1:c.442_443insG	NP_001244926.1:n.442_443insG
XM_005255308.2:c.442_443insG	XP_005255365.1:n.442_443insG
XM_006721043.1:c.442_443insG	XP_006721106.1:n.442_443insG
XM_011545825.1:c.442_443insG	XP_011544127.1:n.442_443insG
XM_011545826.1:c.442_443insG	XP_011544128.1:n.442_443insG
XM_011545827.1:c.442_443insG	XP_011544129.1:n.442_443insG
XM_011545828.1:c.442_443insG	XP_011544130.1:n.442_443insG
XM_011545829.1:c.442_443insG	XP_011544131.1:n.442_443insG
XM_011545830.1:c.442_443insG	XP_011544132.1:n.442_443insG
XM_011545831.1:c.442_443insG	XP_011544133.1:n.442_443insG
XM_011545832.1:c.442_443insG	XP_011544134.1:n.442_443insG
XM_011545833.1:c.442_443insG	XP_011544135.1:n.442_443insG
XM_011545834.1:c.442_443insG	XP_011544136.1:n.442_443insG
XM_011545826.2:c.442_443insG	XP_011544128.1:n.442_443insG
XM_011545827.2:c.442_443insG	XP_011544129.1:n.442_443insG
XM_011545828.2:c.442_443insG	XP_011544130.1:n.442_443insG
XM_011545830.2:c.442_443insG	XP_011544132.1:n.442_443insG
XM_011545833.2:c.442_443insG	XP_011544135.1:n.442_443insG
XM_011545834.2:c.442_443insG	XP_011544136.1:n.442_443insG
NM_000418.4:c.442_443insG MANE Select	NP_000409.1:n.442_443insG
NM_001257406.2:c.442_443insG	NP_001244335.1:n.442_443insG
NM_001257407.2:c.442_443insG	NP_001244336.1:n.442_443insG
NM_001257997.2:c.442_443insG	NP_001244926.1:n.442_443insG