Canonical Allele Identifier: CA2832567719

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154858dup , CM000678.2:g.16154858dup	GRCh38
NC_000016.9:g.16248715dup , CM000678.1:g.16248715dup	GRCh37
NC_000016.8:g.16156216dup	NCBI36
NG_007558.2:g.73618dup
NG_007558.3:g.73764dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.904+19dup
ENST00000622290.5:c.*213+19dup	ENSP00000483331.2:n.*213+19dup
ENST00000205557.12:c.4041+19dup MANE Select	ENSP00000205557.7:n.4041+19dup
ENST00000640696.1:c.855+19dup	ENSP00000492197.1:n.855+19dup
ENST00000205557.11:c.4041+19dup	ENSP00000205557.7:n.4041+19dup
ENST00000456970.6:c.3666+19dup	ENSP00000405002.2:n.3666+19dup
ENST00000576204.5:n.904+19dup
ENST00000622290.4:c.*1250+19dup	ENSP00000483331.1:n.*1250+19dup
NM_001171.5:c.4041+19dup	NP_001162.4:n.4041+19dup
XM_011522479.1:c.4008+19dup	XP_011520781.1:n.4008+19dup
XM_011522480.1:c.3699+19dup	XP_011520782.1:n.3699+19dup
XM_011522481.1:c.3699+19dup	XP_011520783.1:n.3699+19dup
XR_933134.1:n.539-4923dup
NM_001351800.1:c.3699+19dup	NP_001338729.1:n.3699+19dup
NR_147784.1:n.3703+19dup
XM_011522479.2:c.4008+19dup	XP_011520781.1:n.4008+19dup
XM_011522481.3:c.3699+19dup	XP_011520783.1:n.3699+19dup
XM_017023212.1:c.3873+19dup	XP_016878701.1:n.3873+19dup
XM_024450261.1:c.4077+19dup	XP_024306029.1:n.4077+19dup
NM_001171.6:c.4041+19dup MANE Select	NP_001162.5:n.4041+19dup