Allele Registry

Canonical Allele Identifier: CA220779

Gene: LAMA2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.129438688del

GRCh37 chr6:g.129759833del

GRCh37 chr6:g.129759833delA

Linked Data - Sequence & Population

gnomAD v4:

chr6-129438684-GA-G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000178482

ClinVar Variation:

92972

dbSNP:

398123379

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129438688del , CM000668.2:g.129438688del	GRCh38
NC_000006.11:g.129759833del , CM000668.1:g.129759833del	GRCh37
NC_000006.10:g.129801526del	NCBI36
NG_008678.1:g.560548del , LRG_409:g.560548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6011del	ENSP00000481744.2:p.Asn2004MetfsTer10
ENST00000618192.5:c.6275del	ENSP00000480802.2:p.Asn2092MetfsTer10
ENST00000421865.3:c.6011del MANE Select	ENSP00000400365.2:p.Asn2004MetfsTer10
ENST00000421865.2:c.6011del	ENSP00000400365.2:p.Asn2004MetfsTer10
ENST00000617695.4:c.6011del	ENSP00000481744.1:p.Asn2004MetfsTer10
ENST00000618192.4:c.6011del	ENSP00000480802.1:p.Asn2004MetfsTer10
NM_000426.3:c.6011del , LRG_409t1:c.6011del	NP_000417.2:p.Asn2004MetfsTer10
NM_001079823.1:c.6011del	NP_001073291.1:p.Asn2004MetfsTer10
XM_005266981.2:c.6275del	XP_005267038.1:p.Asn2092MetfsTer10
XM_005266982.2:c.6275del	XP_005267039.1:p.Asn2092MetfsTer10
XM_011535820.1:c.6275del	XP_011534122.1:p.Asn2092MetfsTer10
XM_005266981.3:c.6275del	XP_005267038.1:p.Asn2092MetfsTer10
XM_005266982.3:c.6275del	XP_005267039.1:p.Asn2092MetfsTer10
XM_011535820.2:c.6275del	XP_011534122.1:p.Asn2092MetfsTer10
XM_017010851.2:c.6281del	XP_016866340.1:p.Asn2094MetfsTer10
XM_017010852.1:c.4406del	XP_016866341.1:p.Asn1469MetfsTer10
NM_000426.4:c.6011del MANE Select	NP_000417.3:p.Asn2004MetfsTer10
NM_001079823.2:c.6011del	NP_001073291.2:p.Asn2004MetfsTer10

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