Canonical Allele Identifier: CA2210140783

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154856_16154859delinsCCCT , CM000678.2:g.16154856_16154859delinsCCCT	GRCh38
NC_000016.9:g.16248713_16248716delinsCCCT , CM000678.1:g.16248713_16248716delinsCCCT	GRCh37
NC_000016.8:g.16156214_16156217delinsCCCT	NCBI36
NG_007558.2:g.73613_73616delinsAGGG
NG_007558.3:g.73759_73762delinsAGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.904+14_904+17delinsAGGG
ENST00000622290.5:c.*213+14_*213+17delinsAGGG	ENSP00000483331.2:n.*213+14_*213+17delinsAGGG
ENST00000205557.12:c.4041+14_4041+17delinsAGGG MANE Select	ENSP00000205557.7:n.4041+14_4041+17delinsAGGG
ENST00000640696.1:c.855+14_855+17delinsAGGG	ENSP00000492197.1:n.855+14_855+17delinsAGGG
ENST00000205557.11:c.4041+14_4041+17delinsAGGG	ENSP00000205557.7:n.4041+14_4041+17delinsAGGG
ENST00000456970.6:c.3666+14_3666+17delinsAGGG	ENSP00000405002.2:n.3666+14_3666+17delinsAGGG
ENST00000576204.5:n.904+14_904+17delinsAGGG
ENST00000622290.4:c.*1250+14_*1250+17delinsAGGG	ENSP00000483331.1:n.*1250+14_*1250+17delinsAGGG
NM_001171.5:c.4041+14_4041+17delinsAGGG	NP_001162.4:n.4041+14_4041+17delinsAGGG
XM_011522479.1:c.4008+14_4008+17delinsAGGG	XP_011520781.1:n.4008+14_4008+17delinsAGGG
XM_011522480.1:c.3699+14_3699+17delinsAGGG	XP_011520782.1:n.3699+14_3699+17delinsAGGG
XM_011522481.1:c.3699+14_3699+17delinsAGGG	XP_011520783.1:n.3699+14_3699+17delinsAGGG
XR_933134.1:n.539-4925_539-4922delinsCCCT
NM_001351800.1:c.3699+14_3699+17delinsAGGG	NP_001338729.1:n.3699+14_3699+17delinsAGGG
NR_147784.1:n.3703+14_3703+17delinsAGGG
XM_011522479.2:c.4008+14_4008+17delinsAGGG	XP_011520781.1:n.4008+14_4008+17delinsAGGG
XM_011522481.3:c.3699+14_3699+17delinsAGGG	XP_011520783.1:n.3699+14_3699+17delinsAGGG
XM_017023212.1:c.3873+14_3873+17delinsAGGG	XP_016878701.1:n.3873+14_3873+17delinsAGGG
XM_024450261.1:c.4077+14_4077+17delinsAGGG	XP_024306029.1:n.4077+14_4077+17delinsAGGG
NM_001171.6:c.4041+14_4041+17delinsAGGG MANE Select	NP_001162.5:n.4041+14_4041+17delinsAGGG