Canonical Allele Identifier: CA718558992

Gene: ABCC6

Linked Data

• dbSNP Id: rs1253029146
• MyVariant Identifiers: chr16:g.16263460_16263465del (hg19) ; chr16:g.16169603_16169608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169605_16169610del , CM000678.2:g.16169605_16169610del	GRCh38
NC_000016.9:g.16263462_16263467del , CM000678.1:g.16263462_16263467del	GRCh37
NC_000016.8:g.16170963_16170968del	NCBI36
NG_007558.2:g.58864_58869del
NG_007558.3:g.59010_59015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2995+38_2995+43del	ENSP00000483331.2:n.2995+38_2995+43del
ENST00000205557.12:c.2995+38_2995+43del MANE Select	ENSP00000205557.7:n.2995+38_2995+43del
ENST00000205557.11:c.2995+38_2995+43del	ENSP00000205557.7:n.2995+38_2995+43del
ENST00000456970.6:c.2820+38_2820+43del	ENSP00000405002.2:n.2820+38_2820+43del
ENST00000622290.4:c.*204+38_*204+43del	ENSP00000483331.1:n.*204+38_*204+43del
NM_001171.5:c.2995+38_2995+43del	NP_001162.4:n.2995+38_2995+43del
XM_011522479.1:c.2962+38_2962+43del	XP_011520781.1:n.2962+38_2962+43del
XM_011522480.1:c.2653+38_2653+43del	XP_011520782.1:n.2653+38_2653+43del
XM_011522481.1:c.2653+38_2653+43del	XP_011520783.1:n.2653+38_2653+43del
XR_932836.1:n.3230+38_3230+43del
XR_932837.1:n.3231+38_3231+43del
XR_932838.1:n.3231+38_3231+43del
NM_001351800.1:c.2653+38_2653+43del	NP_001338729.1:n.2653+38_2653+43del
NR_147784.1:n.2857+38_2857+43del
XM_011522479.2:c.2962+38_2962+43del	XP_011520781.1:n.2962+38_2962+43del
XM_011522481.3:c.2653+38_2653+43del	XP_011520783.1:n.2653+38_2653+43del
XM_017023212.1:c.2827+38_2827+43del	XP_016878701.1:n.2827+38_2827+43del
XM_017023214.1:c.2995+38_2995+43del	XP_016878703.1:n.2995+38_2995+43del
XM_024450261.1:c.3031+38_3031+43del	XP_024306029.1:n.3031+38_3031+43del
XR_932836.2:n.3176+38_3176+43del
XR_932837.3:n.3176+38_3176+43del
XR_932838.3:n.3176+38_3176+43del
NM_001171.6:c.2995+38_2995+43del MANE Select	NP_001162.5:n.2995+38_2995+43del