Canonical Allele Identifier: CA915952725

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132536_46132539delinsACCA , CM000683.2:g.46132536_46132539delinsACCA	GRCh38
NC_000021.8:g.47552450_47552453delinsACCA , CM000683.1:g.47552450_47552453delinsACCA	GRCh37
NC_000021.7:g.46376878_46376881delinsACCA	NCBI36
NG_008675.1:g.39418_39421delinsACCA , LRG_476:g.39418_39421delinsACCA

Transcript Alleles

HGVS	Amino-acid Change
NM_001849.4:c.3044_3047delinsACCA MANE Select	NP_001840.3:p.Ile1015_Arg1016delinsAsnHis
ENST00000300527.9:c.3044_3047delinsACCA MANE Select	ENSP00000300527.4:p.Ile1015_Arg1016delinsAsnHis
NM_001849.3:c.3044_3047delinsACCA , LRG_476t1:c.3044_3047delinsACCA	NP_001840.3:p.Ile1015_Arg1016delinsAsnHis
ENST00000300527.8:c.3044_3047delinsACCA	ENSP00000300527.4:p.Ile1015_Arg1016delinsAsnHis
XM_011529451.1:c.3044_3047delinsACCA	XP_011527753.1:p.Ile1015_Arg1016delinsAsnHis
XM_011529452.1:c.3044_3047delinsACCA	XP_011527754.1:p.Ile1015_Arg1016delinsAsnHis
XR_937438.1:n.3121_3124delinsACCA
XR_937438.2:n.3128_3131delinsACCA