Canonical Allele Identifier: CA2631973095

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16198278-GTCTGCGAGGTGGGTGAGTAAAGTCTCTTAGGCCAACCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198279_16198318del , CM000678.2:g.16198279_16198318del	GRCh38
NC_000016.9:g.16292136_16292175del , CM000678.1:g.16292136_16292175del	GRCh37
NC_000016.8:g.16199637_16199676del	NCBI36
NG_007558.2:g.30154_30193del
NG_007558.3:g.30300_30339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1177-136_1177-97del	ENSP00000507301.1:n.1177-136_1177-97del
ENST00000622290.5:c.1177-136_1177-97del	ENSP00000483331.2:n.1177-136_1177-97del
ENST00000205557.12:c.1177-136_1177-97del MANE Select	ENSP00000205557.7:n.1177-136_1177-97del
ENST00000205557.11:c.1177-136_1177-97del	ENSP00000205557.7:n.1177-136_1177-97del
ENST00000456970.6:c.1177-136_1177-97del	ENSP00000405002.2:n.1177-136_1177-97del
ENST00000574094.5:n.1273-136_1273-97del
ENST00000622290.4:c.1177-136_1177-97del	ENSP00000483331.1:n.1177-136_1177-97del
NM_001171.5:c.1177-136_1177-97del	NP_001162.4:n.1177-136_1177-97del
XM_011522479.1:c.1177-136_1177-97del	XP_011520781.1:n.1177-136_1177-97del
XM_011522480.1:c.835-136_835-97del	XP_011520782.1:n.835-136_835-97del
XM_011522481.1:c.835-136_835-97del	XP_011520783.1:n.835-136_835-97del
XM_011522482.1:c.1177-136_1177-97del	XP_011520784.1:n.1177-136_1177-97del
XR_932836.1:n.1412-136_1412-97del
XR_932837.1:n.1413-136_1413-97del
XR_932838.1:n.1413-136_1413-97del
NM_001351800.1:c.835-136_835-97del	NP_001338729.1:n.835-136_835-97del
NR_147784.1:n.1214-136_1214-97del
XM_011522479.2:c.1177-136_1177-97del	XP_011520781.1:n.1177-136_1177-97del
XM_011522481.3:c.835-136_835-97del	XP_011520783.1:n.835-136_835-97del
XM_011522482.3:c.1177-136_1177-97del	XP_011520784.1:n.1177-136_1177-97del
XM_017023212.1:c.1177-136_1177-97del	XP_016878701.1:n.1177-136_1177-97del
XM_017023214.1:c.1177-136_1177-97del	XP_016878703.1:n.1177-136_1177-97del
XM_024450261.1:c.1213-136_1213-97del	XP_024306029.1:n.1213-136_1213-97del
XR_932836.2:n.1358-136_1358-97del
XR_932837.3:n.1358-136_1358-97del
XR_932838.3:n.1358-136_1358-97del
NM_001171.6:c.1177-136_1177-97del MANE Select	NP_001162.5:n.1177-136_1177-97del