Canonical Allele Identifier: CA2610801379
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104071940-GCACACACACACGCATGCACA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104071952_104071971del , CM000672.2:g.104071952_104071971del GRCh38
NC_000010.10:g.105831710_105831729del , CM000672.1:g.105831710_105831729del GRCh37
NC_000010.9:g.105821700_105821719del NCBI36
NG_007069.1:g.18921_18940del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.463+72_463+91del ENSP00000358748.3:n.463+72_463+91del
ENST00000648076.2:c.463+72_463+91del MANE Select ENSP00000497653.1:n.463+72_463+91del
ENST00000649118.1:n.578+72_578+91del
ENST00000650263.1:c.415+72_415+91del ENSP00000497850.1:n.415+72_415+91del
ENST00000353479.9:c.463+72_463+91del ENSP00000340937.5:n.463+72_463+91del
ENST00000369733.7:c.463+72_463+91del ENSP00000358748.3:n.463+72_463+91del
ENST00000393211.3:c.463+72_463+91del ENSP00000376905.3:n.463+72_463+91del
ENST00000483876.1:n.513+72_513+91del
NM_000494.3:c.463+72_463+91del NP_000485.3:n.463+72_463+91del
NM_000494.4:c.463+72_463+91del MANE Select NP_000485.3:n.463+72_463+91del
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