Canonical Allele Identifier: CA2210141279

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155222_16155225delinsGTTC , CM000678.2:g.16155222_16155225delinsGTTC	GRCh38
NC_000016.9:g.16249079_16249082delinsGTTC , CM000678.1:g.16249079_16249082delinsGTTC	GRCh37
NC_000016.8:g.16156580_16156583delinsGTTC	NCBI36
NG_007558.2:g.73247_73250delinsGAAC
NG_007558.3:g.73393_73396delinsGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.552_555delinsGAAC
ENST00000622290.5:c.*55-194_*55-191delinsGAAC	ENSP00000483331.2:n.*55-194_*55-191delinsGAAC
ENST00000205557.12:c.3883-194_3883-191delinsGAAC MANE Select	ENSP00000205557.7:n.3883-194_3883-191delinsGAAC
ENST00000640696.1:c.697-194_697-191delinsGAAC	ENSP00000492197.1:n.697-194_697-191delinsGAAC
ENST00000205557.11:c.3883-194_3883-191delinsGAAC	ENSP00000205557.7:n.3883-194_3883-191delinsGAAC
ENST00000456970.6:c.3508-194_3508-191delinsGAAC	ENSP00000405002.2:n.3508-194_3508-191delinsGAAC
ENST00000576204.5:n.552_555delinsGAAC
ENST00000622290.4:c.*1092-194_*1092-191delinsGAAC	ENSP00000483331.1:n.*1092-194_*1092-191delinsGAAC
NM_001171.5:c.3883-194_3883-191delinsGAAC	NP_001162.4:n.3883-194_3883-191delinsGAAC
XM_011522479.1:c.3850-194_3850-191delinsGAAC	XP_011520781.1:n.3850-194_3850-191delinsGAAC
XM_011522480.1:c.3541-194_3541-191delinsGAAC	XP_011520782.1:n.3541-194_3541-191delinsGAAC
XM_011522481.1:c.3541-194_3541-191delinsGAAC	XP_011520783.1:n.3541-194_3541-191delinsGAAC
XR_932836.1:n.4181-194_4181-191delinsGAAC
XR_932837.1:n.3919-194_3919-191delinsGAAC
XR_932838.1:n.3982-194_3982-191delinsGAAC
XR_933134.1:n.539-4559_539-4556delinsGTTC
NM_001351800.1:c.3541-194_3541-191delinsGAAC	NP_001338729.1:n.3541-194_3541-191delinsGAAC
NR_147784.1:n.3545-194_3545-191delinsGAAC
XM_011522479.2:c.3850-194_3850-191delinsGAAC	XP_011520781.1:n.3850-194_3850-191delinsGAAC
XM_011522481.3:c.3541-194_3541-191delinsGAAC	XP_011520783.1:n.3541-194_3541-191delinsGAAC
XM_017023212.1:c.3715-194_3715-191delinsGAAC	XP_016878701.1:n.3715-194_3715-191delinsGAAC
XM_024450261.1:c.3919-194_3919-191delinsGAAC	XP_024306029.1:n.3919-194_3919-191delinsGAAC
XR_932836.2:n.4127-194_4127-191delinsGAAC
XR_932837.3:n.3864-194_3864-191delinsGAAC
XR_932838.3:n.3927-194_3927-191delinsGAAC
NM_001171.6:c.3883-194_3883-191delinsGAAC MANE Select	NP_001162.5:n.3883-194_3883-191delinsGAAC