Canonical Allele Identifier: CA2210143326

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169826_16169837delinsGGTAGGCCAGGT , CM000678.2:g.16169826_16169837delinsGGTAGGCCAGGT	GRCh38
NC_000016.9:g.16263683_16263694delinsGGTAGGCCAGGT , CM000678.1:g.16263683_16263694delinsGGTAGGCCAGGT	GRCh37
NC_000016.8:g.16171184_16171195delinsGGTAGGCCAGGT	NCBI36
NG_007558.2:g.58635_58646delinsACCTGGCCTACC
NG_007558.3:g.58781_58792delinsACCTGGCCTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2804_2815delinsACCTGGCCTACC	ENSP00000483331.2:p.His935=
ENST00000205557.12:c.2804_2815delinsACCTGGCCTACC MANE Select	ENSP00000205557.7:p.His935=
ENST00000205557.11:c.2804_2815delinsACCTGGCCTACC	ENSP00000205557.7:p.His935=
ENST00000456970.6:c.2629_2640delinsACCTGGCCTACC	ENSP00000405002.2:n.2629_2640delinsACCTGGCCTACC
ENST00000622290.4:c.*13_*24delinsACCTGGCCTACC	ENSP00000483331.1:n.*13_*24delinsACCTGGCCTACC
NM_001171.5:c.2804_2815delinsACCTGGCCTACC	NP_001162.4:p.His935=
XM_011522479.1:c.2771_2782delinsACCTGGCCTACC	XP_011520781.1:p.His924=
XM_011522480.1:c.2462_2473delinsACCTGGCCTACC	XP_011520782.1:p.His821=
XM_011522481.1:c.2462_2473delinsACCTGGCCTACC	XP_011520783.1:p.His821=
XR_932836.1:n.3039_3050delinsACCTGGCCTACC
XR_932837.1:n.3040_3051delinsACCTGGCCTACC
XR_932838.1:n.3040_3051delinsACCTGGCCTACC
NM_001351800.1:c.2462_2473delinsACCTGGCCTACC	NP_001338729.1:p.His821=
NR_147784.1:n.2666_2677delinsACCTGGCCTACC
XM_011522479.2:c.2771_2782delinsACCTGGCCTACC	XP_011520781.1:p.His924=
XM_011522481.3:c.2462_2473delinsACCTGGCCTACC	XP_011520783.1:p.His821=
XM_017023212.1:c.2636_2647delinsACCTGGCCTACC	XP_016878701.1:p.His879=
XM_017023214.1:c.2804_2815delinsACCTGGCCTACC	XP_016878703.1:p.His935=
XM_024450261.1:c.2840_2851delinsACCTGGCCTACC	XP_024306029.1:p.His947=
XR_932836.2:n.2985_2996delinsACCTGGCCTACC
XR_932837.3:n.2985_2996delinsACCTGGCCTACC
XR_932838.3:n.2985_2996delinsACCTGGCCTACC
NM_001171.6:c.2804_2815delinsACCTGGCCTACC MANE Select	NP_001162.5:p.His935=