Canonical Allele Identifier: CA3993350

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1532771
• ClinVar RCV Id: RCV002102182
• dbSNP Id: rs538587087
• ExAC: 6:129636885 ATTC / A
• gnomAD v2: 6-129636885-ATTC-A
• gnomAD v3: 6-129315740-ATTC-A
• gnomAD v4: 6-129315740-ATTC-A
• MyVariant Identifiers: chr6:g.129636886_129636888del (hg19) ; chr6:g.129315741_129315743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315746_129315748del , CM000668.2:g.129315746_129315748del	GRCh38
NC_000006.11:g.129636891_129636893del , CM000668.1:g.129636891_129636893del	GRCh37
NC_000006.10:g.129678584_129678586del	NCBI36
NG_008678.1:g.437606_437608del , LRG_409:g.437606_437608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3736-16_3736-14del	ENSP00000481744.2:n.3736-16_3736-14del
ENST00000618192.5:c.4000-16_4000-14del	ENSP00000480802.2:n.4000-16_4000-14del
ENST00000421865.3:c.3736-16_3736-14del MANE Select	ENSP00000400365.2:n.3736-16_3736-14del
ENST00000421865.2:c.3736-16_3736-14del	ENSP00000400365.2:n.3736-16_3736-14del
ENST00000617695.4:c.3736-16_3736-14del	ENSP00000481744.1:n.3736-16_3736-14del
ENST00000618192.4:c.3736-16_3736-14del	ENSP00000480802.1:n.3736-16_3736-14del
NM_000426.3:c.3736-16_3736-14del , LRG_409t1:c.3736-16_3736-14del	NP_000417.2:n.3736-16_3736-14del
NM_001079823.1:c.3736-16_3736-14del	NP_001073291.1:n.3736-16_3736-14del
XM_005266981.2:c.4000-16_4000-14del	XP_005267038.1:n.4000-16_4000-14del
XM_005266982.2:c.4000-16_4000-14del	XP_005267039.1:n.4000-16_4000-14del
XM_011535820.1:c.4000-16_4000-14del	XP_011534122.1:n.4000-16_4000-14del
XM_005266981.3:c.4000-16_4000-14del	XP_005267038.1:n.4000-16_4000-14del
XM_005266982.3:c.4000-16_4000-14del	XP_005267039.1:n.4000-16_4000-14del
XM_011535820.2:c.4000-16_4000-14del	XP_011534122.1:n.4000-16_4000-14del
XM_017010851.2:c.4006-16_4006-14del	XP_016866340.1:n.4006-16_4006-14del
XM_017010852.1:c.2131-16_2131-14del	XP_016866341.1:n.2131-16_2131-14del
XM_017010853.1:c.4000-16_4000-14del	XP_016866342.1:n.4000-16_4000-14del
NM_000426.4:c.3736-16_3736-14del MANE Select	NP_000417.3:n.3736-16_3736-14del
NM_001079823.2:c.3736-16_3736-14del	NP_001073291.2:n.3736-16_3736-14del