Canonical Allele Identifier: CA2631969285

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169771-TGGCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169774_16169779del , CM000678.2:g.16169774_16169779del	GRCh38
NC_000016.9:g.16263631_16263636del , CM000678.1:g.16263631_16263636del	GRCh37
NC_000016.8:g.16171132_16171137del	NCBI36
NG_007558.2:g.58695_58700del
NG_007558.3:g.58841_58846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2864_2869del	ENSP00000483331.2:p.Leu955_Cys956del
ENST00000205557.12:c.2864_2869del MANE Select	ENSP00000205557.7:p.Leu955_Cys956del
ENST00000205557.11:c.2864_2869del	ENSP00000205557.7:p.Leu955_Cys956del
ENST00000456970.6:c.2689_2694del	ENSP00000405002.2:n.2689_2694del
ENST00000622290.4:c.*73_*78del	ENSP00000483331.1:n.*73_*78del
NM_001171.5:c.2864_2869del	NP_001162.4:p.Leu955_Cys956del
XM_011522479.1:c.2831_2836del	XP_011520781.1:p.Leu944_Cys945del
XM_011522480.1:c.2522_2527del	XP_011520782.1:p.Leu841_Cys842del
XM_011522481.1:c.2522_2527del	XP_011520783.1:p.Leu841_Cys842del
XR_932836.1:n.3099_3104del
XR_932837.1:n.3100_3105del
XR_932838.1:n.3100_3105del
NM_001351800.1:c.2522_2527del	NP_001338729.1:p.Leu841_Cys842del
NR_147784.1:n.2726_2731del
XM_011522479.2:c.2831_2836del	XP_011520781.1:p.Leu944_Cys945del
XM_011522481.3:c.2522_2527del	XP_011520783.1:p.Leu841_Cys842del
XM_017023212.1:c.2696_2701del	XP_016878701.1:p.Leu899_Cys900del
XM_017023214.1:c.2864_2869del	XP_016878703.1:p.Leu955_Cys956del
XM_024450261.1:c.2900_2905del	XP_024306029.1:p.Leu967_Cys968del
XR_932836.2:n.3045_3050del
XR_932837.3:n.3045_3050del
XR_932838.3:n.3045_3050del
NM_001171.6:c.2864_2869del MANE Select	NP_001162.5:p.Leu955_Cys956del