Canonical Allele Identifier: CA1663192595
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465169_129465170delinsAC , CM000668.2:g.129465169_129465170delinsAC GRCh38
NC_000006.11:g.129786314_129786315delinsAC , CM000668.1:g.129786314_129786315delinsAC GRCh37
NC_000006.10:g.129828007_129828008delinsAC NCBI36
NG_008678.1:g.587029_587030delinsAC , LRG_409:g.587029_587030delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7180_7181delinsAC ENSP00000481744.2:p.Thr2394=
ENST00000618192.5:c.7444_7445delinsAC ENSP00000480802.2:p.Thr2482=
ENST00000684985.1:n.811_812delinsAC
ENST00000688150.1:n.519_520delinsAC
ENST00000421865.3:c.7180_7181delinsAC MANE Select ENSP00000400365.2:p.Thr2394=
ENST00000421865.2:c.7180_7181delinsAC ENSP00000400365.2:p.Thr2394=
ENST00000617695.4:c.7180_7181delinsAC ENSP00000481744.1:p.Thr2394=
ENST00000618192.4:c.7177_7178delinsAC ENSP00000480802.1:p.Thr2393=
NM_000426.3:c.7180_7181delinsAC , LRG_409t1:c.7180_7181delinsAC NP_000417.2:p.Thr2394=
NM_001079823.1:c.7180_7181delinsAC NP_001073291.1:p.Thr2394=
XM_005266981.2:c.7444_7445delinsAC XP_005267038.1:p.Thr2482=
XM_005266982.2:c.7444_7445delinsAC XP_005267039.1:p.Thr2482=
XM_011535820.1:c.7438_7439delinsAC XP_011534122.1:p.Thr2480=
XM_005266981.3:c.7444_7445delinsAC XP_005267038.1:p.Thr2482=
XM_005266982.3:c.7444_7445delinsAC XP_005267039.1:p.Thr2482=
XM_011535820.2:c.7438_7439delinsAC XP_011534122.1:p.Thr2480=
XM_017010851.2:c.7450_7451delinsAC XP_016866340.1:p.Thr2484=
XM_017010852.1:c.5575_5576delinsAC XP_016866341.1:p.Thr1859=
NM_000426.4:c.7180_7181delinsAC MANE Select NP_000417.3:p.Thr2394=
NM_001079823.2:c.7180_7181delinsAC NP_001073291.2:p.Thr2394=