Canonical Allele Identifier: CA1663115107

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349328_129349331delinsTGAC , CM000668.2:g.129349328_129349331delinsTGAC	GRCh38
NC_000006.11:g.129670473_129670476delinsTGAC , CM000668.1:g.129670473_129670476delinsTGAC	GRCh37
NC_000006.10:g.129712166_129712169delinsTGAC	NCBI36
NG_008678.1:g.471188_471191delinsTGAC , LRG_409:g.471188_471191delinsTGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4467_4470delinsTGAC	ENSP00000481744.2:p.Leu1489=
ENST00000618192.5:c.4731_4734delinsTGAC	ENSP00000480802.2:p.Leu1577=
ENST00000692206.1:n.116_119delinsTGAC
ENST00000421865.3:c.4467_4470delinsTGAC MANE Select	ENSP00000400365.2:p.Leu1489=
ENST00000421865.2:c.4467_4470delinsTGAC	ENSP00000400365.2:p.Leu1489=
ENST00000617695.4:c.4467_4470delinsTGAC	ENSP00000481744.1:p.Leu1489=
ENST00000618192.4:c.4467_4470delinsTGAC	ENSP00000480802.1:p.Leu1489=
NM_000426.3:c.4467_4470delinsTGAC , LRG_409t1:c.4467_4470delinsTGAC	NP_000417.2:p.Leu1489=
NM_001079823.1:c.4467_4470delinsTGAC	NP_001073291.1:p.Leu1489=
XM_005266981.2:c.4731_4734delinsTGAC	XP_005267038.1:p.Leu1577=
XM_005266982.2:c.4731_4734delinsTGAC	XP_005267039.1:p.Leu1577=
XM_011535820.1:c.4731_4734delinsTGAC	XP_011534122.1:p.Leu1577=
XM_005266981.3:c.4731_4734delinsTGAC	XP_005267038.1:p.Leu1577=
XM_005266982.3:c.4731_4734delinsTGAC	XP_005267039.1:p.Leu1577=
XM_011535820.2:c.4731_4734delinsTGAC	XP_011534122.1:p.Leu1577=
XM_017010851.2:c.4737_4740delinsTGAC	XP_016866340.1:p.Leu1579=
XM_017010852.1:c.2862_2865delinsTGAC	XP_016866341.1:p.Leu954=
XM_017010853.1:c.4731_4734delinsTGAC	XP_016866342.1:p.Leu1577=
NM_000426.4:c.4467_4470delinsTGAC MANE Select	NP_000417.3:p.Leu1489=
NM_001079823.2:c.4467_4470delinsTGAC	NP_001073291.2:p.Leu1489=