Canonical Allele Identifier: CA2553533288

Gene: A2ML1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839186_8839187insTGAT , CM000674.2:g.8839186_8839187insTGAT	GRCh38
NC_000012.11:g.8991782_8991783insTGAT , CM000674.1:g.8991782_8991783insTGAT	GRCh37
NC_000012.10:g.8883049_8883050insTGAT	NCBI36
NG_042857.1:g.21715_21716insTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.1044_1045insTGAT MANE Select	ENSP00000299698.7:p.Asn349Ter
ENST00000299698.11:c.1044_1045insTGAT	ENSP00000299698.7:p.Asn349Ter
NM_144670.4:c.1044_1045insTGAT	NP_653271.2:p.Asn349Ter
NM_144670.5:c.1044_1045insTGAT	NP_653271.2:p.Asn349Ter
XM_011520566.1:c.1044_1045insTGAT	XP_011518868.1:p.Asn349Ter
XM_011520567.1:c.1044_1045insTGAT	XP_011518869.1:p.Asn349Ter
XR_931275.1:n.1142_1143insTGAT
XM_011520566.2:c.1044_1045insTGAT	XP_011518868.1:p.Asn349Ter
XM_011520567.2:c.1044_1045insTGAT	XP_011518869.1:p.Asn349Ter
XM_017018868.1:c.1044_1045insTGAT	XP_016874357.1:p.Asn349Ter
XM_017018869.1:c.1044_1045insTGAT	XP_016874358.1:p.Asn349Ter
XM_017018870.1:c.1044_1045insTGAT	XP_016874359.1:p.Asn349Ter
XR_001748594.1:n.1142_1143insTGAT
NM_144670.6:c.1044_1045insTGAT MANE Select	NP_653271.3:p.Asn349Ter