Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27462819_27462826del , CM000670.2:g.27462819_27462826del	GRCh38
NC_000008.10:g.27320336_27320343del , CM000670.1:g.27320336_27320343del	GRCh37
NC_000008.9:g.27376253_27376260del	NCBI36
NG_015827.1:g.21471_21478del

Transcript Alleles

HGVS	Amino-acid Change
NM_000742.4:c.1464+153_1464+160del MANE Select	NP_000733.2:n.1464+153_1464+160del
ENST00000407991.3:c.1464+153_1464+160del MANE Select	ENSP00000385026.1:n.1464+153_1464+160del
NM_000742.3:c.1464+153_1464+160del	NP_000733.2:n.1464+153_1464+160del
NM_001282455.1:c.1419+153_1419+160del	NP_001269384.1:n.1419+153_1419+160del
NM_001282455.2:c.1419+153_1419+160del	NP_001269384.1:n.1419+153_1419+160del
NM_001347705.1:c.987+153_987+160del	NP_001334634.1:n.987+153_987+160del
NM_001347705.2:c.987+153_987+160del	NP_001334634.1:n.987+153_987+160del
NM_001347706.1:c.987+153_987+160del	NP_001334635.1:n.987+153_987+160del
NM_001347706.2:c.987+153_987+160del	NP_001334635.1:n.987+153_987+160del
NM_001347707.1:c.870+153_870+160del	NP_001334636.1:n.870+153_870+160del
NM_001347707.2:c.870+153_870+160del	NP_001334636.1:n.870+153_870+160del
NM_001347708.1:c.870+153_870+160del	NP_001334637.1:n.870+153_870+160del
NM_001347708.2:c.870+153_870+160del	NP_001334637.1:n.870+153_870+160del
ENST00000240132.7:c.1419+153_1419+160del	ENSP00000240132.2:n.1419+153_1419+160del
ENST00000407991.2:c.1464+153_1464+160del	ENSP00000385026.1:n.1464+153_1464+160del
ENST00000520600.1:n.290-1072_290-1065del
ENST00000520933.7:c.1398+153_1398+160del	ENSP00000429616.2:n.1398+153_1398+160del
ENST00000523695.5:c.866+153_866+160del	ENSP00000430612.1:n.866+153_866+160del
XM_005273397.1:c.987+153_987+160del	XP_005273454.1:n.987+153_987+160del
XM_006716282.1:c.1464+153_1464+160del	XP_006716345.1:n.1464+153_1464+160del
XM_011544388.1:c.1464+153_1464+160del	XP_011542690.1:n.1464+153_1464+160del
XM_011544389.1:c.870+153_870+160del	XP_011542691.1:n.870+153_870+160del
XM_011544389.2:c.870+153_870+160del	XP_011542691.1:n.870+153_870+160del