Canonical Allele Identifier: CA2580075130

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481268_129481269del , CM000668.2:g.129481268_129481269del	GRCh38
NC_000006.11:g.129802413_129802414del , CM000668.1:g.129802413_129802414del	GRCh37
NC_000006.10:g.129844106_129844107del	NCBI36
NG_008678.1:g.603128_603129del , LRG_409:g.603128_603129del

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7578_7579del MANE Select	NP_000417.3:p.Tyr2527HisfsTer3
ENST00000421865.3:c.7578_7579del MANE Select	ENSP00000400365.2:p.Tyr2527HisfsTer3
NM_000426.3:c.7578_7579del , LRG_409t1:c.7578_7579del	NP_000417.2:p.Tyr2527HisfsTer3
NM_001079823.1:c.7566_7567del	NP_001073291.1:p.Tyr2523HisfsTer3
NM_001079823.2:c.7566_7567del	NP_001073291.2:p.Tyr2523HisfsTer3
ENST00000421865.2:c.7578_7579del	ENSP00000400365.2:p.Tyr2527HisfsTer3
ENST00000617695.4:c.7566_7567del	ENSP00000481744.1:p.Tyr2523HisfsTer3
ENST00000617695.5:c.7566_7567del	ENSP00000481744.2:p.Tyr2523HisfsTer3
ENST00000618192.4:c.7575_7576del	ENSP00000480802.1:p.Tyr2526HisfsTer3
ENST00000618192.5:c.7842_7843del	ENSP00000480802.2:p.Tyr2615HisfsTer3
XM_005266981.2:c.7842_7843del	XP_005267038.1:p.Tyr2615HisfsTer3
XM_005266981.3:c.7842_7843del	XP_005267038.1:p.Tyr2615HisfsTer3
XM_005266982.2:c.7830_7831del	XP_005267039.1:p.Tyr2611HisfsTer3
XM_005266982.3:c.7830_7831del	XP_005267039.1:p.Tyr2611HisfsTer3
XM_011535820.1:c.7836_7837del	XP_011534122.1:p.Tyr2613HisfsTer3
XM_011535820.2:c.7836_7837del	XP_011534122.1:p.Tyr2613HisfsTer3
XM_017010851.2:c.7848_7849del	XP_016866340.1:p.Tyr2617HisfsTer3
XM_017010852.1:c.5973_5974del	XP_016866341.1:p.Tyr1992HisfsTer3