Canonical Allele Identifier: CA2210133460

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149873_16149875delinsTGA , CM000678.2:g.16149873_16149875delinsTGA	GRCh38
NC_000016.9:g.16243730_16243732delinsTGA , CM000678.1:g.16243730_16243732delinsTGA	GRCh37
NC_000016.8:g.16151231_16151233delinsTGA	NCBI36
NG_007558.2:g.78597_78599delinsTCA
NG_007558.3:g.78743_78745delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*942_*944delinsTCA	ENSP00000483331.2:n.*942_*944delinsTCA
ENST00000205557.12:c.*258_*260delinsTCA MANE Select	ENSP00000205557.7:n.*258_*260delinsTCA
ENST00000640696.1:c.1584_1586delinsTCA	ENSP00000492197.1:n.1584_1586delinsTCA
ENST00000205557.11:c.*258_*260delinsTCA	ENSP00000205557.7:n.*258_*260delinsTCA
ENST00000576204.5:n.1633_1635delinsTCA
ENST00000622290.4:c.*1979_*1981delinsTCA	ENSP00000483331.1:n.*1979_*1981delinsTCA
NM_001171.5:c.*258_*260delinsTCA	NP_001162.4:n.*258_*260delinsTCA
XM_011522479.1:c.*258_*260delinsTCA	XP_011520781.1:n.*258_*260delinsTCA
XM_011522480.1:c.*258_*260delinsTCA	XP_011520782.1:n.*258_*260delinsTCA
XM_011522481.1:c.*258_*260delinsTCA	XP_011520783.1:n.*258_*260delinsTCA
XR_933134.1:n.538+5583_538+5585delinsTGA
NM_001351800.1:c.*258_*260delinsTCA	NP_001338729.1:n.*258_*260delinsTCA
NR_147784.1:n.4432_4434delinsTCA
XM_011522479.2:c.*258_*260delinsTCA	XP_011520781.1:n.*258_*260delinsTCA
XM_011522481.3:c.*258_*260delinsTCA	XP_011520783.1:n.*258_*260delinsTCA
XM_017023212.1:c.*258_*260delinsTCA	XP_016878701.1:n.*258_*260delinsTCA
XM_024450261.1:c.*258_*260delinsTCA	XP_024306029.1:n.*258_*260delinsTCA
NM_001171.6:c.*258_*260delinsTCA MANE Select	NP_001162.5:n.*258_*260delinsTCA