Canonical Allele Identifier: CA2617511231

Gene: A2ML1

Linked Data

• gnomAD v4: 12-8839209-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839209_8839210insA , CM000674.2:g.8839209_8839210insA	GRCh38
NC_000012.11:g.8991805_8991806insA , CM000674.1:g.8991805_8991806insA	GRCh37
NC_000012.10:g.8883072_8883073insA	NCBI36
NG_042857.1:g.21738_21739insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.1067_1068insA MANE Select	ENSP00000299698.7:p.Phe357LeufsTer8
ENST00000299698.11:c.1067_1068insA	ENSP00000299698.7:p.Phe357LeufsTer8
NM_144670.4:c.1067_1068insA	NP_653271.2:p.Phe357LeufsTer8
NM_144670.5:c.1067_1068insA	NP_653271.2:p.Phe357LeufsTer8
XM_011520566.1:c.1067_1068insA	XP_011518868.1:p.Phe357LeufsTer8
XM_011520567.1:c.1067_1068insA	XP_011518869.1:p.Phe357LeufsTer8
XR_931275.1:n.1165_1166insA
XM_011520566.2:c.1067_1068insA	XP_011518868.1:p.Phe357LeufsTer8
XM_011520567.2:c.1067_1068insA	XP_011518869.1:p.Phe357LeufsTer8
XM_017018868.1:c.1067_1068insA	XP_016874357.1:p.Phe357LeufsTer8
XM_017018869.1:c.1067_1068insA	XP_016874358.1:p.Phe357LeufsTer8
XM_017018870.1:c.1067_1068insA	XP_016874359.1:p.Phe357LeufsTer8
XR_001748594.1:n.1165_1166insA
NM_144670.6:c.1067_1068insA MANE Select	NP_653271.3:p.Phe357LeufsTer8