Canonical Allele Identifier: CA2290307518

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864789_23864790delinsCT , CM000680.2:g.23864789_23864790delinsCT	GRCh38
NC_000018.9:g.21444753_21444754delinsCT , CM000680.1:g.21444753_21444754delinsCT	GRCh37
NC_000018.8:g.19698751_19698752delinsCT	NCBI36
NG_007853.2:g.180192_180193delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000313654.14:c.4589_4590delinsCT MANE Select	ENSP00000324532.8:p.Ser1530=
ENST00000649721.1:c.1481_1482delinsCT	ENSP00000497885.1:p.Ser494=
ENST00000313654.13:c.4589_4590delinsCT	ENSP00000324532.8:p.Ser1530=
ENST00000399516.7:c.4589_4590delinsCT	ENSP00000382432.2:p.Ser1530=
NM_001127717.2:c.4589_4590delinsCT	NP_001121189.2:p.Ser1530=
NM_198129.2:c.4589_4590delinsCT	NP_937762.2:p.Ser1530=
XM_011525978.1:c.4616_4617delinsCT	XP_011524280.1:p.Ser1539=
XM_011525979.1:c.4607_4608delinsCT	XP_011524281.1:p.Ser1536=
XM_011525980.1:c.4598_4599delinsCT	XP_011524282.1:p.Ser1533=
XM_011525981.1:c.4484_4485delinsCT	XP_011524283.1:p.Ser1495=
XM_011525982.1:c.4616_4617delinsCT	XP_011524284.1:p.Ser1539=
XM_011525978.2:c.4616_4617delinsCT	XP_011524280.1:p.Ser1539=
XM_011525979.2:c.4607_4608delinsCT	XP_011524281.1:p.Ser1536=
XM_011525980.2:c.4598_4599delinsCT	XP_011524282.1:p.Ser1533=
XM_011525981.2:c.4484_4485delinsCT	XP_011524283.1:p.Ser1495=
XM_011525982.2:c.4616_4617delinsCT	XP_011524284.1:p.Ser1539=
XM_017025743.1:c.2468_2469delinsCT	XP_016881232.1:p.Ser823=
XM_017025744.1:c.158_159delinsCT	XP_016881233.1:p.Ser53=
XR_001753199.1:n.4857_4858delinsCT
NM_001127717.3:c.4589_4590delinsCT	NP_001121189.2:p.Ser1530=
NM_198129.3:c.4589_4590delinsCT	NP_937762.2:p.Ser1530=
NM_001127717.4:c.4589_4590delinsCT	NP_001121189.2:p.Ser1530=
NM_198129.4:c.4589_4590delinsCT MANE Select	NP_937762.2:p.Ser1530=