Canonical Allele Identifier: CA146901404

Gene: LAMA2

Linked Data

• dbSNP Id: rs908524600
• gnomAD v3: 6-129342218-AGTGT-A
• gnomAD v4: 6-129342218-AGTGT-A
• MyVariant Identifiers: chr6:g.129663364_129663367del (hg19) ; chr6:g.129342219_129342222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129342227_129342230del , CM000668.2:g.129342227_129342230del	GRCh38
NC_000006.11:g.129663372_129663375del , CM000668.1:g.129663372_129663375del	GRCh37
NC_000006.10:g.129705065_129705068del	NCBI36
NG_008678.1:g.464087_464090del , LRG_409:g.464087_464090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.4312-116_4312-113del	ENSP00000481744.2:n.4312-116_4312-113del
ENST00000618192.5:c.4576-116_4576-113del	ENSP00000480802.2:n.4576-116_4576-113del
ENST00000421865.3:c.4312-116_4312-113del MANE Select	ENSP00000400365.2:n.4312-116_4312-113del
ENST00000421865.2:c.4312-116_4312-113del	ENSP00000400365.2:n.4312-116_4312-113del
ENST00000617695.4:c.4312-116_4312-113del	ENSP00000481744.1:n.4312-116_4312-113del
ENST00000618192.4:c.4312-116_4312-113del	ENSP00000480802.1:n.4312-116_4312-113del
NM_000426.3:c.4312-116_4312-113del , LRG_409t1:c.4312-116_4312-113del	NP_000417.2:n.4312-116_4312-113del
NM_001079823.1:c.4312-116_4312-113del	NP_001073291.1:n.4312-116_4312-113del
XM_005266981.2:c.4576-116_4576-113del	XP_005267038.1:n.4576-116_4576-113del
XM_005266982.2:c.4576-116_4576-113del	XP_005267039.1:n.4576-116_4576-113del
XM_011535820.1:c.4576-116_4576-113del	XP_011534122.1:n.4576-116_4576-113del
XM_005266981.3:c.4576-116_4576-113del	XP_005267038.1:n.4576-116_4576-113del
XM_005266982.3:c.4576-116_4576-113del	XP_005267039.1:n.4576-116_4576-113del
XM_011535820.2:c.4576-116_4576-113del	XP_011534122.1:n.4576-116_4576-113del
XM_017010851.2:c.4582-116_4582-113del	XP_016866340.1:n.4582-116_4582-113del
XM_017010852.1:c.2707-116_2707-113del	XP_016866341.1:n.2707-116_2707-113del
XM_017010853.1:c.4576-116_4576-113del	XP_016866342.1:n.4576-116_4576-113del
NM_000426.4:c.4312-116_4312-113del MANE Select	NP_000417.3:n.4312-116_4312-113del
NM_001079823.2:c.4312-116_4312-113del	NP_001073291.2:n.4312-116_4312-113del