Canonical Allele Identifier: CA818844859

Gene: LAMA2

Linked Data

• dbSNP Id: rs1166791624
• gnomAD v3: 6-129465414-TAC-T
• gnomAD v4: 6-129465414-TAC-T
• MyVariant Identifiers: chr6:g.129786560_129786561del (hg19) ; chr6:g.129465415_129465416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465416_129465417del , CM000668.2:g.129465416_129465417del	GRCh38
NC_000006.11:g.129786561_129786562del , CM000668.1:g.129786561_129786562del	GRCh37
NC_000006.10:g.129828254_129828255del	NCBI36
NG_008678.1:g.587276_587277del , LRG_409:g.587276_587277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7300+127_7300+128del	ENSP00000481744.2:n.7300+127_7300+128del
ENST00000618192.5:c.7564+127_7564+128del	ENSP00000480802.2:n.7564+127_7564+128del
ENST00000684985.1:n.931+127_931+128del
ENST00000421865.3:c.7300+127_7300+128del MANE Select	ENSP00000400365.2:n.7300+127_7300+128del
ENST00000421865.2:c.7300+127_7300+128del	ENSP00000400365.2:n.7300+127_7300+128del
ENST00000617695.4:c.7300+127_7300+128del	ENSP00000481744.1:n.7300+127_7300+128del
ENST00000618192.4:c.7297+127_7297+128del	ENSP00000480802.1:n.7297+127_7297+128del
NM_000426.3:c.7300+127_7300+128del , LRG_409t1:c.7300+127_7300+128del	NP_000417.2:n.7300+127_7300+128del
NM_001079823.1:c.7300+127_7300+128del	NP_001073291.1:n.7300+127_7300+128del
XM_005266981.2:c.7564+127_7564+128del	XP_005267038.1:n.7564+127_7564+128del
XM_005266982.2:c.7564+127_7564+128del	XP_005267039.1:n.7564+127_7564+128del
XM_011535820.1:c.7558+127_7558+128del	XP_011534122.1:n.7558+127_7558+128del
XM_005266981.3:c.7564+127_7564+128del	XP_005267038.1:n.7564+127_7564+128del
XM_005266982.3:c.7564+127_7564+128del	XP_005267039.1:n.7564+127_7564+128del
XM_011535820.2:c.7558+127_7558+128del	XP_011534122.1:n.7558+127_7558+128del
XM_017010851.2:c.7570+127_7570+128del	XP_016866340.1:n.7570+127_7570+128del
XM_017010852.1:c.5695+127_5695+128del	XP_016866341.1:n.5695+127_5695+128del
NM_000426.4:c.7300+127_7300+128del MANE Select	NP_000417.3:n.7300+127_7300+128del
NM_001079823.2:c.7300+127_7300+128del	NP_001073291.2:n.7300+127_7300+128del