Canonical Allele Identifier: CA621207198

Gene: ABCC6

Linked Data

• dbSNP Id: rs1156237445
• gnomAD v2: 16-16263716-GCA-G
• gnomAD v4: 16-16169859-GCA-G
• MyVariant Identifiers: chr16:g.16263717_16263718del (hg19) ; chr16:g.16169860_16169861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169864_16169865del , CM000678.2:g.16169864_16169865del	GRCh38
NC_000016.9:g.16263721_16263722del , CM000678.1:g.16263721_16263722del	GRCh37
NC_000016.8:g.16171222_16171223del	NCBI36
NG_007558.2:g.58611_58612del
NG_007558.3:g.58757_58758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2788-8_2788-7del	ENSP00000483331.2:n.2788-8_2788-7del
ENST00000205557.12:c.2788-8_2788-7del MANE Select	ENSP00000205557.7:n.2788-8_2788-7del
ENST00000205557.11:c.2788-8_2788-7del	ENSP00000205557.7:n.2788-8_2788-7del
ENST00000456970.6:c.2613-8_2613-7del	ENSP00000405002.2:n.2613-8_2613-7del
ENST00000622290.4:c.2613-8_2613-7del	ENSP00000483331.1:n.2613-8_2613-7del
NM_001171.5:c.2788-8_2788-7del	NP_001162.4:n.2788-8_2788-7del
XM_011522479.1:c.2755-8_2755-7del	XP_011520781.1:n.2755-8_2755-7del
XM_011522480.1:c.2446-8_2446-7del	XP_011520782.1:n.2446-8_2446-7del
XM_011522481.1:c.2446-8_2446-7del	XP_011520783.1:n.2446-8_2446-7del
XR_932836.1:n.3023-8_3023-7del
XR_932837.1:n.3024-8_3024-7del
XR_932838.1:n.3024-8_3024-7del
NM_001351800.1:c.2446-8_2446-7del	NP_001338729.1:n.2446-8_2446-7del
NR_147784.1:n.2650-8_2650-7del
XM_011522479.2:c.2755-8_2755-7del	XP_011520781.1:n.2755-8_2755-7del
XM_011522481.3:c.2446-8_2446-7del	XP_011520783.1:n.2446-8_2446-7del
XM_017023212.1:c.2620-8_2620-7del	XP_016878701.1:n.2620-8_2620-7del
XM_017023214.1:c.2788-8_2788-7del	XP_016878703.1:n.2788-8_2788-7del
XM_024450261.1:c.2824-8_2824-7del	XP_024306029.1:n.2824-8_2824-7del
XR_932836.2:n.2969-8_2969-7del
XR_932837.3:n.2969-8_2969-7del
XR_932838.3:n.2969-8_2969-7del
NM_001171.6:c.2788-8_2788-7del MANE Select	NP_001162.5:n.2788-8_2788-7del