Canonical Allele Identifier: CA913109490

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129670473_129670476del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349328_129349331del , CM000668.2:g.129349328_129349331del	GRCh38
NC_000006.11:g.129670473_129670476del , CM000668.1:g.129670473_129670476del	GRCh37
NC_000006.10:g.129712166_129712169del	NCBI36
NG_008678.1:g.471188_471191del , LRG_409:g.471188_471191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4467_4470del	ENSP00000481744.2:p.Asp1490ThrfsTer?
ENST00000618192.5:c.4731_4734del	ENSP00000480802.2:p.Asp1578ThrfsTer?
ENST00000692206.1:n.116_119del
ENST00000421865.3:c.4467_4470del MANE Select	ENSP00000400365.2:p.Asp1490ThrfsTer?
ENST00000421865.2:c.4467_4470del	ENSP00000400365.2:p.Asp1490ThrfsTer?
ENST00000617695.4:c.4467_4470del	ENSP00000481744.1:p.Asp1490ThrfsTer?
ENST00000618192.4:c.4467_4470del	ENSP00000480802.1:p.Asp1490ThrfsTer?
NM_000426.3:c.4467_4470del , LRG_409t1:c.4467_4470del	NP_000417.2:p.Asp1490ThrfsTer?
NM_001079823.1:c.4467_4470del	NP_001073291.1:p.Asp1490ThrfsTer?
XM_005266981.2:c.4731_4734del	XP_005267038.1:p.Asp1578ThrfsTer?
XM_005266982.2:c.4731_4734del	XP_005267039.1:p.Asp1578ThrfsTer?
XM_011535820.1:c.4731_4734del	XP_011534122.1:p.Asp1578ThrfsTer?
XM_005266981.3:c.4731_4734del	XP_005267038.1:p.Asp1578ThrfsTer?
XM_005266982.3:c.4731_4734del	XP_005267039.1:p.Asp1578ThrfsTer?
XM_011535820.2:c.4731_4734del	XP_011534122.1:p.Asp1578ThrfsTer?
XM_017010851.2:c.4737_4740del	XP_016866340.1:p.Asp1580ThrfsTer?
XM_017010852.1:c.2862_2865del	XP_016866341.1:p.Asp955ThrfsTer?
XM_017010853.1:c.4731_4734del	XP_016866342.1:p.Asp1578ThrfsTer?
NM_000426.4:c.4467_4470del MANE Select	NP_000417.3:p.Asp1490ThrfsTer?
NM_001079823.2:c.4467_4470del	NP_001073291.2:p.Asp1490ThrfsTer?