Canonical Allele Identifier: CA718587356

Gene: ABCC6

Linked Data

• dbSNP Id: rs768990161
• gnomAD v3: 16-16150900-ATGGGGTC-A
• gnomAD v4: 16-16150900-ATGGGGTC-A
• MyVariant Identifiers: chr16:g.16244758_16244764del (hg19) ; chr16:g.16150901_16150907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150910_16150916del , CM000678.2:g.16150910_16150916del	GRCh38
NC_000016.9:g.16244767_16244773del , CM000678.1:g.16244767_16244773del	GRCh37
NC_000016.8:g.16152268_16152274del	NCBI36
NG_007558.2:g.77565_77571del
NG_007558.3:g.77711_77717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-135_*381-129del	ENSP00000483331.2:n.*381-135_*381-129del
ENST00000205557.12:c.4209-135_4209-129del MANE Select	ENSP00000205557.7:n.4209-135_4209-129del
ENST00000640696.1:c.1023-135_1023-129del	ENSP00000492197.1:n.1023-135_1023-129del
ENST00000205557.11:c.4209-135_4209-129del	ENSP00000205557.7:n.4209-135_4209-129del
ENST00000456970.6:c.3834-135_3834-129del	ENSP00000405002.2:n.3834-135_3834-129del
ENST00000576204.5:n.1072-135_1072-129del
ENST00000622290.4:c.*1418-135_*1418-129del	ENSP00000483331.1:n.*1418-135_*1418-129del
NM_001171.5:c.4209-135_4209-129del	NP_001162.4:n.4209-135_4209-129del
XM_011522479.1:c.4176-135_4176-129del	XP_011520781.1:n.4176-135_4176-129del
XM_011522480.1:c.3867-135_3867-129del	XP_011520782.1:n.3867-135_3867-129del
XM_011522481.1:c.3867-135_3867-129del	XP_011520783.1:n.3867-135_3867-129del
XR_933134.1:n.538+6620_538+6626del
NM_001351800.1:c.3867-135_3867-129del	NP_001338729.1:n.3867-135_3867-129del
NR_147784.1:n.3871-135_3871-129del
XM_011522479.2:c.4176-135_4176-129del	XP_011520781.1:n.4176-135_4176-129del
XM_011522481.3:c.3867-135_3867-129del	XP_011520783.1:n.3867-135_3867-129del
XM_017023212.1:c.4041-135_4041-129del	XP_016878701.1:n.4041-135_4041-129del
XM_024450261.1:c.4245-135_4245-129del	XP_024306029.1:n.4245-135_4245-129del
NM_001171.6:c.4209-135_4209-129del MANE Select	NP_001162.5:n.4209-135_4209-129del