Canonical Allele Identifier: CA2631964372

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16165662-CACAGTGGCCAGTGGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165664_16165680del , CM000678.2:g.16165664_16165680del	GRCh38
NC_000016.9:g.16259521_16259537del , CM000678.1:g.16259521_16259537del	GRCh37
NC_000016.8:g.16167022_16167038del	NCBI36
NG_007558.2:g.62793_62809del
NG_007558.3:g.62939_62955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3250_3266del	ENSP00000483331.2:p.Thr1084GlyfsTer19
ENST00000205557.12:c.3250_3266del MANE Select	ENSP00000205557.7:p.Thr1084GlyfsTer19
ENST00000640696.1:c.265_280del
ENST00000205557.11:c.3250_3266del	ENSP00000205557.7:p.Thr1084GlyfsTer19
ENST00000456970.6:c.3075_3091del	ENSP00000405002.2:n.3075_3091del
ENST00000622290.4:c.*459_*475del	ENSP00000483331.1:n.*459_*475del
NM_001171.5:c.3250_3266del	NP_001162.4:p.Thr1084GlyfsTer19
XM_011522479.1:c.3217_3233del	XP_011520781.1:p.Thr1073GlyfsTer19
XM_011522480.1:c.2908_2924del	XP_011520782.1:p.Thr970GlyfsTer19
XM_011522481.1:c.2908_2924del	XP_011520783.1:p.Thr970GlyfsTer19
XR_932836.1:n.3485_3501del
XR_932837.1:n.3486_3502del
XR_932838.1:n.3486_3502del
NM_001351800.1:c.2908_2924del	NP_001338729.1:p.Thr970GlyfsTer19
NR_147784.1:n.3112_3128del
XM_011522479.2:c.3217_3233del	XP_011520781.1:p.Thr1073GlyfsTer19
XM_011522481.3:c.2908_2924del	XP_011520783.1:p.Thr970GlyfsTer19
XM_017023212.1:c.3082_3098del	XP_016878701.1:p.Thr1028GlyfsTer19
XM_017023214.1:c.3250_3266del	XP_016878703.1:p.Thr1084GlyfsTer?
XM_024450261.1:c.3286_3302del	XP_024306029.1:p.Thr1096GlyfsTer19
XR_932836.2:n.3431_3447del
XR_932837.3:n.3431_3447del
XR_932838.3:n.3431_3447del
NM_001171.6:c.3250_3266del MANE Select	NP_001162.5:p.Thr1084GlyfsTer19