Canonical Allele Identifier: CA913109491

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129571264_129571267del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250119_129250122del , CM000668.2:g.129250119_129250122del	GRCh38
NC_000006.11:g.129571264_129571267del , CM000668.1:g.129571264_129571267del	GRCh37
NC_000006.10:g.129612957_129612960del	NCBI36
NG_008678.1:g.371979_371982del , LRG_409:g.371979_371982del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.1790_1793del	ENSP00000481744.2:p.Ala597GlufsTer5
ENST00000618192.5:c.1790_1793del	ENSP00000480802.2:p.Ala597GlufsTer5
ENST00000421865.3:c.1790_1793del MANE Select	ENSP00000400365.2:p.Ala597GlufsTer5
ENST00000421865.2:c.1790_1793del	ENSP00000400365.2:p.Ala597GlufsTer5
ENST00000617695.4:c.1790_1793del	ENSP00000481744.1:p.Ala597GlufsTer5
ENST00000618192.4:c.1790_1793del	ENSP00000480802.1:p.Ala597GlufsTer5
NM_000426.3:c.1790_1793del , LRG_409t1:c.1790_1793del	NP_000417.2:p.Ala597GlufsTer5
NM_001079823.1:c.1790_1793del	NP_001073291.1:p.Ala597GlufsTer5
XM_005266981.2:c.1790_1793del	XP_005267038.1:p.Ala597GlufsTer5
XM_005266982.2:c.1790_1793del	XP_005267039.1:p.Ala597GlufsTer5
XM_011535820.1:c.1790_1793del	XP_011534122.1:p.Ala597GlufsTer5
XM_005266981.3:c.1790_1793del	XP_005267038.1:p.Ala597GlufsTer5
XM_005266982.3:c.1790_1793del	XP_005267039.1:p.Ala597GlufsTer5
XM_011535820.2:c.1790_1793del	XP_011534122.1:p.Ala597GlufsTer5
XM_017010851.2:c.1796_1799del	XP_016866340.1:p.Ala599GlufsTer5
XM_017010852.1:c.-80_-77del	XP_016866341.1:n.-80_-77del
XM_017010853.1:c.1790_1793del	XP_016866342.1:p.Ala597GlufsTer5
NM_000426.4:c.1790_1793del MANE Select	NP_000417.3:p.Ala597GlufsTer5
NM_001079823.2:c.1790_1793del	NP_001073291.2:p.Ala597GlufsTer5