Canonical Allele Identifier: CA1663192694

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465272_129465275delinsCAAG , CM000668.2:g.129465272_129465275delinsCAAG	GRCh38
NC_000006.11:g.129786417_129786420delinsCAAG , CM000668.1:g.129786417_129786420delinsCAAG	GRCh37
NC_000006.10:g.129828110_129828113delinsCAAG	NCBI36
NG_008678.1:g.587132_587135delinsCAAG , LRG_409:g.587132_587135delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7283_7286delinsCAAG	ENSP00000481744.2:p.Ser2428=
ENST00000618192.5:c.7547_7550delinsCAAG	ENSP00000480802.2:p.Ser2516=
ENST00000684985.1:n.914_917delinsCAAG
ENST00000421865.3:c.7283_7286delinsCAAG MANE Select	ENSP00000400365.2:p.Ser2428=
ENST00000421865.2:c.7283_7286delinsCAAG	ENSP00000400365.2:p.Ser2428=
ENST00000617695.4:c.7283_7286delinsCAAG	ENSP00000481744.1:p.Ser2428=
ENST00000618192.4:c.7280_7283delinsCAAG	ENSP00000480802.1:p.Ser2427=
NM_000426.3:c.7283_7286delinsCAAG , LRG_409t1:c.7283_7286delinsCAAG	NP_000417.2:p.Ser2428=
NM_001079823.1:c.7283_7286delinsCAAG	NP_001073291.1:p.Ser2428=
XM_005266981.2:c.7547_7550delinsCAAG	XP_005267038.1:p.Ser2516=
XM_005266982.2:c.7547_7550delinsCAAG	XP_005267039.1:p.Ser2516=
XM_011535820.1:c.7541_7544delinsCAAG	XP_011534122.1:p.Ser2514=
XM_005266981.3:c.7547_7550delinsCAAG	XP_005267038.1:p.Ser2516=
XM_005266982.3:c.7547_7550delinsCAAG	XP_005267039.1:p.Ser2516=
XM_011535820.2:c.7541_7544delinsCAAG	XP_011534122.1:p.Ser2514=
XM_017010851.2:c.7553_7556delinsCAAG	XP_016866340.1:p.Ser2518=
XM_017010852.1:c.5678_5681delinsCAAG	XP_016866341.1:p.Ser1893=
NM_000426.4:c.7283_7286delinsCAAG MANE Select	NP_000417.3:p.Ser2428=
NM_001079823.2:c.7283_7286delinsCAAG	NP_001073291.2:p.Ser2428=