Canonical Allele Identifier: CA2578737113

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315621del , CM000668.2:g.129315621del	GRCh38
NC_000006.11:g.129636766del , CM000668.1:g.129636766del	GRCh37
NC_000006.10:g.129678459del	NCBI36
NG_008678.1:g.437481del , LRG_409:g.437481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3701del	ENSP00000481744.2:p.Tyr1234PhefsTer13
ENST00000618192.5:c.3965del	ENSP00000480802.2:p.Tyr1322PhefsTer13
ENST00000421865.3:c.3701del MANE Select	ENSP00000400365.2:p.Tyr1234PhefsTer13
ENST00000421865.2:c.3701del	ENSP00000400365.2:p.Tyr1234PhefsTer13
ENST00000617695.4:c.3701del	ENSP00000481744.1:p.Tyr1234PhefsTer13
ENST00000618192.4:c.3701del	ENSP00000480802.1:p.Tyr1234PhefsTer13
NM_000426.3:c.3701del , LRG_409t1:c.3701del	NP_000417.2:p.Tyr1234PhefsTer13
NM_001079823.1:c.3701del	NP_001073291.1:p.Tyr1234PhefsTer13
XM_005266981.2:c.3965del	XP_005267038.1:p.Tyr1322PhefsTer13
XM_005266982.2:c.3965del	XP_005267039.1:p.Tyr1322PhefsTer13
XM_011535820.1:c.3965del	XP_011534122.1:p.Tyr1322PhefsTer13
XM_005266981.3:c.3965del	XP_005267038.1:p.Tyr1322PhefsTer13
XM_005266982.3:c.3965del	XP_005267039.1:p.Tyr1322PhefsTer13
XM_011535820.2:c.3965del	XP_011534122.1:p.Tyr1322PhefsTer13
XM_017010851.2:c.3971del	XP_016866340.1:p.Tyr1324PhefsTer13
XM_017010852.1:c.2096del	XP_016866341.1:p.Tyr699PhefsTer13
XM_017010853.1:c.3965del	XP_016866342.1:p.Tyr1322PhefsTer13
NM_000426.4:c.3701del MANE Select	NP_000417.3:p.Tyr1234PhefsTer13
NM_001079823.2:c.3701del	NP_001073291.2:p.Tyr1234PhefsTer13