Canonical Allele Identifier: CA2631969513

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169848-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169850del , CM000678.2:g.16169850del	GRCh38
NC_000016.9:g.16263707del , CM000678.1:g.16263707del	GRCh37
NC_000016.8:g.16171208del	NCBI36
NG_007558.2:g.58623del
NG_007558.3:g.58769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2792del	ENSP00000483331.2:p.Lys931ArgfsTer?
ENST00000205557.12:c.2792del MANE Select	ENSP00000205557.7:p.Lys931ArgfsTer?
ENST00000205557.11:c.2792del	ENSP00000205557.7:p.Lys931ArgfsTer?
ENST00000456970.6:c.2617del	ENSP00000405002.2:n.2617del
ENST00000622290.4:c.*1del	ENSP00000483331.1:n.*1del
NM_001171.5:c.2792del	NP_001162.4:p.Lys931ArgfsTer?
XM_011522479.1:c.2759del	XP_011520781.1:p.Lys920ArgfsTer?
XM_011522480.1:c.2450del	XP_011520782.1:p.Lys817ArgfsTer?
XM_011522481.1:c.2450del	XP_011520783.1:p.Lys817ArgfsTer?
XR_932836.1:n.3027del
XR_932837.1:n.3028del
XR_932838.1:n.3028del
NM_001351800.1:c.2450del	NP_001338729.1:p.Lys817ArgfsTer?
NR_147784.1:n.2654del
XM_011522479.2:c.2759del	XP_011520781.1:p.Lys920ArgfsTer?
XM_011522481.3:c.2450del	XP_011520783.1:p.Lys817ArgfsTer?
XM_017023212.1:c.2624del	XP_016878701.1:p.Lys875ArgfsTer?
XM_017023214.1:c.2792del	XP_016878703.1:p.Lys931ArgfsTer?
XM_024450261.1:c.2828del	XP_024306029.1:p.Lys943ArgfsTer?
XR_932836.2:n.2973del
XR_932837.3:n.2973del
XR_932838.3:n.2973del
NM_001171.6:c.2792del MANE Select	NP_001162.5:p.Lys931ArgfsTer?