Canonical Allele Identifier: CA932069903
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086313491
gnomAD v3: 10-104037630-GC-G
gnomAD v4: 10-104037630-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037631del , CM000672.2:g.104037631del GRCh38
NC_000010.10:g.105797389del , CM000672.1:g.105797389del GRCh37
NC_000010.9:g.105787379del NCBI36
NG_007069.1:g.53250del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3073+5del ENSP00000358748.3:n.3073+5del
ENST00000648076.2:c.3208+5del MANE Select ENSP00000497653.1:n.3208+5del
ENST00000353479.9:c.3208+5del ENSP00000340937.5:n.3208+5del
ENST00000369733.7:c.3073+5del ENSP00000358748.3:n.3073+5del
NM_000494.3:c.3208+5del NP_000485.3:n.3208+5del
NM_000494.4:c.3208+5del MANE Select NP_000485.3:n.3208+5del
Search 100 bp 5'
Search 100 bp 3'