Canonical Allele Identifier: CA6435906

Gene: A2ML1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8849781_8849782del , CM000674.2:g.8849781_8849782del	GRCh38
NC_000012.11:g.9002377_9002378del , CM000674.1:g.9002377_9002378del	GRCh37
NC_000012.10:g.8893644_8893645del	NCBI36
NG_042857.1:g.32310_32311del

Transcript Alleles

HGVS	Amino-acid Change
NM_144670.6:c.2119+22_2119+23del MANE Select	NP_653271.3:n.2119+22_2119+23del
ENST00000299698.12:c.2119+22_2119+23del MANE Select	ENSP00000299698.7:n.2119+22_2119+23del
NM_001282424.1:c.646+22_646+23del	NP_001269353.1:n.646+22_646+23del
NM_001282424.2:c.646+22_646+23del	NP_001269353.1:n.646+22_646+23del
NM_001282424.3:c.646+22_646+23del	NP_001269353.2:n.646+22_646+23del
NM_144670.4:c.2119+22_2119+23del	NP_653271.2:n.2119+22_2119+23del
NM_144670.5:c.2119+22_2119+23del	NP_653271.2:n.2119+22_2119+23del
ENST00000299698.11:c.2119+22_2119+23del	ENSP00000299698.7:n.2119+22_2119+23del
ENST00000539547.5:c.646+22_646+23del	ENSP00000438292.1:n.646+22_646+23del
ENST00000541459.5:c.769+22_769+23del	ENSP00000443174.1:n.769+22_769+23del
XM_011520566.1:c.2158+22_2158+23del	XP_011518868.1:n.2158+22_2158+23del
XM_011520566.2:c.2158+22_2158+23del	XP_011518868.1:n.2158+22_2158+23del
XM_011520567.1:c.2158+22_2158+23del	XP_011518869.1:n.2158+22_2158+23del
XM_011520567.2:c.2158+22_2158+23del	XP_011518869.1:n.2158+22_2158+23del
XM_017018868.1:c.2158+22_2158+23del	XP_016874357.1:n.2158+22_2158+23del
XM_017018869.1:c.2158+22_2158+23del	XP_016874358.1:n.2158+22_2158+23del
XM_017018870.1:c.2119+22_2119+23del	XP_016874359.1:n.2119+22_2119+23del
XR_001748594.1:n.2217+22_2217+23del
XR_931275.1:n.2256+22_2256+23del