Canonical Allele Identifier: CA7925776

Gene: ABCC6

Linked Data

• dbSNP Id: rs752477633
• ExAC: 16:16263683 GGTAGGCCAGGT / G
• gnomAD v2: 16-16263683-GGTAGGCCAGGT-G
• MyVariant Identifiers: chr16:g.16263684_16263694del (hg19) ; chr16:g.16169828_16169838del (hg38) ; chr16:g.16169827_16169837del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169828_16169838del , CM000678.2:g.16169828_16169838del	GRCh38
NC_000016.9:g.16263685_16263695del , CM000678.1:g.16263685_16263695del	GRCh37
NC_000016.8:g.16171186_16171196del	NCBI36
NG_007558.2:g.58635_58645del
NG_007558.3:g.58781_58791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2804_2814del	ENSP00000483331.2:p.His935ProfsTer?
ENST00000205557.12:c.2804_2814del MANE Select	ENSP00000205557.7:p.His935ProfsTer?
ENST00000205557.11:c.2804_2814del	ENSP00000205557.7:p.His935ProfsTer?
ENST00000456970.6:c.2629_2639del	ENSP00000405002.2:n.2629_2639del
ENST00000622290.4:c.*13_*23del	ENSP00000483331.1:n.*13_*23del
NM_001171.5:c.2804_2814del	NP_001162.4:p.His935ProfsTer?
XM_011522479.1:c.2771_2781del	XP_011520781.1:p.His924ProfsTer?
XM_011522480.1:c.2462_2472del	XP_011520782.1:p.His821ProfsTer?
XM_011522481.1:c.2462_2472del	XP_011520783.1:p.His821ProfsTer?
XR_932836.1:n.3039_3049del
XR_932837.1:n.3040_3050del
XR_932838.1:n.3040_3050del
NM_001351800.1:c.2462_2472del	NP_001338729.1:p.His821ProfsTer?
NR_147784.1:n.2666_2676del
XM_011522479.2:c.2771_2781del	XP_011520781.1:p.His924ProfsTer?
XM_011522481.3:c.2462_2472del	XP_011520783.1:p.His821ProfsTer?
XM_017023212.1:c.2636_2646del	XP_016878701.1:p.His879ProfsTer?
XM_017023214.1:c.2804_2814del	XP_016878703.1:p.His935ProfsTer?
XM_024450261.1:c.2840_2850del	XP_024306029.1:p.His947ProfsTer?
XR_932836.2:n.2985_2995del
XR_932837.3:n.2985_2995del
XR_932838.3:n.2985_2995del
NM_001171.6:c.2804_2814del MANE Select	NP_001162.5:p.His935ProfsTer?