Canonical Allele Identifier: CA2680307104

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129460380-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460384del , CM000668.2:g.129460384del	GRCh38
NC_000006.11:g.129781529del , CM000668.1:g.129781529del	GRCh37
NC_000006.10:g.129823222del	NCBI36
NG_008678.1:g.582244del , LRG_409:g.582244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6992+60del	ENSP00000481744.2:n.6992+60del
ENST00000618192.5:c.7256+60del	ENSP00000480802.2:n.7256+60del
ENST00000684985.1:n.623+60del
ENST00000688150.1:n.331+60del
ENST00000421865.3:c.6992+60del MANE Select	ENSP00000400365.2:n.6992+60del
ENST00000421865.2:c.6992+60del	ENSP00000400365.2:n.6992+60del
ENST00000617695.4:c.6992+60del	ENSP00000481744.1:n.6992+60del
ENST00000618192.4:c.6989+60del	ENSP00000480802.1:n.6989+60del
NM_000426.3:c.6992+60del , LRG_409t1:c.6992+60del	NP_000417.2:n.6992+60del
NM_001079823.1:c.6992+60del	NP_001073291.1:n.6992+60del
XM_005266981.2:c.7256+60del	XP_005267038.1:n.7256+60del
XM_005266982.2:c.7256+60del	XP_005267039.1:n.7256+60del
XM_011535820.1:c.7250+60del	XP_011534122.1:n.7250+60del
XM_005266981.3:c.7256+60del	XP_005267038.1:n.7256+60del
XM_005266982.3:c.7256+60del	XP_005267039.1:n.7256+60del
XM_011535820.2:c.7250+60del	XP_011534122.1:n.7250+60del
XM_017010851.2:c.7262+60del	XP_016866340.1:n.7262+60del
XM_017010852.1:c.5387+60del	XP_016866341.1:n.5387+60del
NM_000426.4:c.6992+60del MANE Select	NP_000417.3:n.6992+60del
NM_001079823.2:c.6992+60del	NP_001073291.2:n.6992+60del