Canonical Allele Identifier: CA2210136848

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163134_16163135delinsGA , CM000678.2:g.16163134_16163135delinsGA	GRCh38
NC_000016.9:g.16256991_16256992delinsGA , CM000678.1:g.16256991_16256992delinsGA	GRCh37
NC_000016.8:g.16164492_16164493delinsGA	NCBI36
NG_007558.2:g.65337_65338delinsTC
NG_007558.3:g.65483_65484delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3364_3365delinsTC	ENSP00000483331.2:p.Ser1122=
ENST00000205557.12:c.3364_3365delinsTC MANE Select	ENSP00000205557.7:p.Ser1122=
ENST00000640696.1:c.321-1571_321-1570delinsTC	ENSP00000492197.1:n.321-1571_321-1570delinsTC
ENST00000205557.11:c.3364_3365delinsTC	ENSP00000205557.7:p.Ser1122=
ENST00000456970.6:c.3132-1571_3132-1570delinsTC	ENSP00000405002.2:n.3132-1571_3132-1570delinsTC
ENST00000622290.4:c.*573_*574delinsTC	ENSP00000483331.1:n.*573_*574delinsTC
NM_001171.5:c.3364_3365delinsTC	NP_001162.4:p.Ser1122=
XM_011522479.1:c.3331_3332delinsTC	XP_011520781.1:p.Ser1111=
XM_011522480.1:c.3022_3023delinsTC	XP_011520782.1:p.Ser1008=
XM_011522481.1:c.3022_3023delinsTC	XP_011520783.1:p.Ser1008=
XR_932836.1:n.3599_3600delinsTC
XR_932837.1:n.3543-1571_3543-1570delinsTC
XR_932838.1:n.3543-1571_3543-1570delinsTC
XR_933133.1:n.407+291_407+292delinsGA
XR_933134.1:n.754+291_754+292delinsGA
NM_001351800.1:c.3022_3023delinsTC	NP_001338729.1:p.Ser1008=
NR_147784.1:n.3169-1571_3169-1570delinsTC
XM_011522479.2:c.3331_3332delinsTC	XP_011520781.1:p.Ser1111=
XM_011522481.3:c.3022_3023delinsTC	XP_011520783.1:p.Ser1008=
XM_017023212.1:c.3196_3197delinsTC	XP_016878701.1:p.Ser1066=
XM_017023214.1:c.3307-1571_3307-1570delinsTC	XP_016878703.1:n.3307-1571_3307-1570delinsTC
XM_024450261.1:c.3400_3401delinsTC	XP_024306029.1:p.Ser1134=
XR_932836.2:n.3545_3546delinsTC
XR_932837.3:n.3488-1571_3488-1570delinsTC
XR_932838.3:n.3488-1571_3488-1570delinsTC
NM_001171.6:c.3364_3365delinsTC MANE Select	NP_001162.5:p.Ser1122=