Canonical Allele Identifier: CA278675424

Gene: ABCC6

Linked Data

• dbSNP Id: rs999447698
• gnomAD v3: 16-16150789-C-CAATT
• gnomAD v4: 16-16150789-C-CAATT
• MyVariant Identifiers: chr16:g.16244646_16244647insAATT (hg19) ; chr16:g.16150789_16150790insAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150791_16150794dup , CM000678.2:g.16150791_16150794dup	GRCh38
NC_000016.9:g.16244648_16244651dup , CM000678.1:g.16244648_16244651dup	GRCh37
NC_000016.8:g.16152149_16152152dup	NCBI36
NG_007558.2:g.77679_77682dup
NG_007558.3:g.77825_77828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-21_*381-18dup	ENSP00000483331.2:n.*381-21_*381-18dup
ENST00000205557.12:c.4209-21_4209-18dup MANE Select	ENSP00000205557.7:n.4209-21_4209-18dup
ENST00000640696.1:c.1023-21_1023-18dup	ENSP00000492197.1:n.1023-21_1023-18dup
ENST00000205557.11:c.4209-21_4209-18dup	ENSP00000205557.7:n.4209-21_4209-18dup
ENST00000456970.6:c.3834-21_3834-18dup	ENSP00000405002.2:n.3834-21_3834-18dup
ENST00000576204.5:n.1072-21_1072-18dup
ENST00000622290.4:c.*1418-21_*1418-18dup	ENSP00000483331.1:n.*1418-21_*1418-18dup
NM_001171.5:c.4209-21_4209-18dup	NP_001162.4:n.4209-21_4209-18dup
XM_011522479.1:c.4176-21_4176-18dup	XP_011520781.1:n.4176-21_4176-18dup
XM_011522480.1:c.3867-21_3867-18dup	XP_011520782.1:n.3867-21_3867-18dup
XM_011522481.1:c.3867-21_3867-18dup	XP_011520783.1:n.3867-21_3867-18dup
XR_933134.1:n.538+6501_538+6504dup
NM_001351800.1:c.3867-21_3867-18dup	NP_001338729.1:n.3867-21_3867-18dup
NR_147784.1:n.3871-21_3871-18dup
XM_011522479.2:c.4176-21_4176-18dup	XP_011520781.1:n.4176-21_4176-18dup
XM_011522481.3:c.3867-21_3867-18dup	XP_011520783.1:n.3867-21_3867-18dup
XM_017023212.1:c.4041-21_4041-18dup	XP_016878701.1:n.4041-21_4041-18dup
XM_024450261.1:c.4245-21_4245-18dup	XP_024306029.1:n.4245-21_4245-18dup
NM_001171.6:c.4209-21_4209-18dup MANE Select	NP_001162.5:n.4209-21_4209-18dup