Canonical Allele Identifier: CA451936154

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129297783-T-TTGG
• MyVariant Identifiers: chr6:g.129618928_129618929insTGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297786_129297788dup , CM000668.2:g.129297786_129297788dup	GRCh38
NC_000006.11:g.129618931_129618933dup , CM000668.1:g.129618931_129618933dup	GRCh37
NC_000006.10:g.129660624_129660626dup	NCBI36
NG_008678.1:g.419646_419648dup , LRG_409:g.419646_419648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2958_2960dup	ENSP00000481744.2:p.Trp986_Cys987insTrp
ENST00000618192.5:c.3222_3224dup	ENSP00000480802.2:p.Trp1074_Cys1075insTrp
ENST00000421865.3:c.2958_2960dup MANE Select	ENSP00000400365.2:p.Trp986_Cys987insTrp
ENST00000645154.1:c.473_475dup
ENST00000421865.2:c.2958_2960dup	ENSP00000400365.2:p.Trp986_Cys987insTrp
ENST00000617695.4:c.2958_2960dup	ENSP00000481744.1:p.Trp986_Cys987insTrp
ENST00000618192.4:c.2958_2960dup	ENSP00000480802.1:p.Trp986_Cys987insTrp
NM_000426.3:c.2958_2960dup , LRG_409t1:c.2958_2960dup	NP_000417.2:p.Trp986_Cys987insTrp
NM_001079823.1:c.2958_2960dup	NP_001073291.1:p.Trp986_Cys987insTrp
XM_005266981.2:c.3222_3224dup	XP_005267038.1:p.Trp1074_Cys1075insTrp
XM_005266982.2:c.3222_3224dup	XP_005267039.1:p.Trp1074_Cys1075insTrp
XM_011535820.1:c.3222_3224dup	XP_011534122.1:p.Trp1074_Cys1075insTrp
XM_005266981.3:c.3222_3224dup	XP_005267038.1:p.Trp1074_Cys1075insTrp
XM_005266982.3:c.3222_3224dup	XP_005267039.1:p.Trp1074_Cys1075insTrp
XM_011535820.2:c.3222_3224dup	XP_011534122.1:p.Trp1074_Cys1075insTrp
XM_017010851.2:c.3228_3230dup	XP_016866340.1:p.Trp1076_Cys1077insTrp
XM_017010852.1:c.1353_1355dup	XP_016866341.1:p.Trp451_Cys452insTrp
XM_017010853.1:c.3222_3224dup	XP_016866342.1:p.Trp1074_Cys1075insTrp
NM_000426.4:c.2958_2960dup MANE Select	NP_000417.3:p.Trp986_Cys987insTrp
NM_001079823.2:c.2958_2960dup	NP_001073291.2:p.Trp986_Cys987insTrp