Canonical Allele Identifier: CA1663060391

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250149_129250151delinsCAT , CM000668.2:g.129250149_129250151delinsCAT	GRCh38
NC_000006.11:g.129571294_129571296delinsCAT , CM000668.1:g.129571294_129571296delinsCAT	GRCh37
NC_000006.10:g.129612987_129612989delinsCAT	NCBI36
NG_008678.1:g.372009_372011delinsCAT , LRG_409:g.372009_372011delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.1820_1822delinsCAT	ENSP00000481744.2:p.Ser607=
ENST00000618192.5:c.1820_1822delinsCAT	ENSP00000480802.2:p.Ser607=
ENST00000421865.3:c.1820_1822delinsCAT MANE Select	ENSP00000400365.2:p.Ser607=
ENST00000421865.2:c.1820_1822delinsCAT	ENSP00000400365.2:p.Ser607=
ENST00000617695.4:c.1820_1822delinsCAT	ENSP00000481744.1:p.Ser607=
ENST00000618192.4:c.1820_1822delinsCAT	ENSP00000480802.1:p.Ser607=
NM_000426.3:c.1820_1822delinsCAT , LRG_409t1:c.1820_1822delinsCAT	NP_000417.2:p.Ser607=
NM_001079823.1:c.1820_1822delinsCAT	NP_001073291.1:p.Ser607=
XM_005266981.2:c.1820_1822delinsCAT	XP_005267038.1:p.Ser607=
XM_005266982.2:c.1820_1822delinsCAT	XP_005267039.1:p.Ser607=
XM_011535820.1:c.1820_1822delinsCAT	XP_011534122.1:p.Ser607=
XM_005266981.3:c.1820_1822delinsCAT	XP_005267038.1:p.Ser607=
XM_005266982.3:c.1820_1822delinsCAT	XP_005267039.1:p.Ser607=
XM_011535820.2:c.1820_1822delinsCAT	XP_011534122.1:p.Ser607=
XM_017010851.2:c.1826_1828delinsCAT	XP_016866340.1:p.Ser609=
XM_017010852.1:c.-50_-48delinsCAT	XP_016866341.1:n.-50_-48delinsCAT
XM_017010853.1:c.1820_1822delinsCAT	XP_016866342.1:p.Ser607=
NM_000426.4:c.1820_1822delinsCAT MANE Select	NP_000417.3:p.Ser607=
NM_001079823.2:c.1820_1822delinsCAT	NP_001073291.2:p.Ser607=