Canonical Allele Identifier: CA818844765

Gene: LAMA2

Linked Data

• dbSNP Id: rs1171197892
• gnomAD v4: 6-129465310-T-TAGGCCTTATACATGATACA
• MyVariant Identifiers: chr6:g.129786455_129786456insAGGCCTTATACATGATACA (hg19) ; chr6:g.129465310_129465311insAGGCCTTATACATGATACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465310_129465311insAGGCCTTATACATGATACA , CM000668.2:g.129465310_129465311insAGGCCTTATACATGATACA	GRCh38
NC_000006.11:g.129786455_129786456insAGGCCTTATACATGATACA , CM000668.1:g.129786455_129786456insAGGCCTTATACATGATACA	GRCh37
NC_000006.10:g.129828148_129828149insAGGCCTTATACATGATACA	NCBI36
NG_008678.1:g.587170_587171insAGGCCTTATACATGATACA , LRG_409:g.587170_587171insAGGCCTTATACATGATACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7300+21_7300+22insAGGCCTTATACATGATACA	ENSP00000481744.2:n.7300+21_7300+22insAGGCCTTATACATGATACA
ENST00000618192.5:c.7564+21_7564+22insAGGCCTTATACATGATACA	ENSP00000480802.2:n.7564+21_7564+22insAGGCCTTATACATGATACA
ENST00000684985.1:n.931+21_931+22insAGGCCTTATACATGATACA
ENST00000421865.3:c.7300+21_7300+22insAGGCCTTATACATGATACA MANE Select	ENSP00000400365.2:n.7300+21_7300+22insAGGCCTTATACATGATACA
ENST00000421865.2:c.7300+21_7300+22insAGGCCTTATACATGATACA	ENSP00000400365.2:n.7300+21_7300+22insAGGCCTTATACATGATACA
ENST00000617695.4:c.7300+21_7300+22insAGGCCTTATACATGATACA	ENSP00000481744.1:n.7300+21_7300+22insAGGCCTTATACATGATACA
ENST00000618192.4:c.7297+21_7297+22insAGGCCTTATACATGATACA	ENSP00000480802.1:n.7297+21_7297+22insAGGCCTTATACATGATACA
NM_000426.3:c.7300+21_7300+22insAGGCCTTATACATGATACA , LRG_409t1:c.7300+21_7300+22insAGGCCTTATACATGATACA	NP_000417.2:n.7300+21_7300+22insAGGCCTTATACATGATACA
NM_001079823.1:c.7300+21_7300+22insAGGCCTTATACATGATACA	NP_001073291.1:n.7300+21_7300+22insAGGCCTTATACATGATACA
XM_005266981.2:c.7564+21_7564+22insAGGCCTTATACATGATACA	XP_005267038.1:n.7564+21_7564+22insAGGCCTTATACATGATACA
XM_005266982.2:c.7564+21_7564+22insAGGCCTTATACATGATACA	XP_005267039.1:n.7564+21_7564+22insAGGCCTTATACATGATACA
XM_011535820.1:c.7558+21_7558+22insAGGCCTTATACATGATACA	XP_011534122.1:n.7558+21_7558+22insAGGCCTTATACATGATACA
XM_005266981.3:c.7564+21_7564+22insAGGCCTTATACATGATACA	XP_005267038.1:n.7564+21_7564+22insAGGCCTTATACATGATACA
XM_005266982.3:c.7564+21_7564+22insAGGCCTTATACATGATACA	XP_005267039.1:n.7564+21_7564+22insAGGCCTTATACATGATACA
XM_011535820.2:c.7558+21_7558+22insAGGCCTTATACATGATACA	XP_011534122.1:n.7558+21_7558+22insAGGCCTTATACATGATACA
XM_017010851.2:c.7570+21_7570+22insAGGCCTTATACATGATACA	XP_016866340.1:n.7570+21_7570+22insAGGCCTTATACATGATACA
XM_017010852.1:c.5695+21_5695+22insAGGCCTTATACATGATACA	XP_016866341.1:n.5695+21_5695+22insAGGCCTTATACATGATACA
NM_000426.4:c.7300+21_7300+22insAGGCCTTATACATGATACA MANE Select	NP_000417.3:n.7300+21_7300+22insAGGCCTTATACATGATACA
NM_001079823.2:c.7300+21_7300+22insAGGCCTTATACATGATACA	NP_001073291.2:n.7300+21_7300+22insAGGCCTTATACATGATACA