Canonical Allele Identifier: CA5678102
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs755757138
ExAC: 10:105797546 ACAAAG / A
gnomAD v2: 10-105797546-ACAAAG-A
gnomAD v3: 10-104037788-ACAAAG-A
gnomAD v4: 10-104037788-ACAAAG-A
MyVariant Identifiers: chr10:g.105797547_105797551del (hg19) chr10:g.104037789_104037793del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037794_104037798del , CM000672.2:g.104037794_104037798del GRCh38
NC_000010.10:g.105797552_105797556del , CM000672.1:g.105797552_105797556del GRCh37
NC_000010.9:g.105787542_105787546del NCBI36
NG_007069.1:g.53088_53092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2936-20_2936-16del ENSP00000358748.3:n.2936-20_2936-16del
ENST00000648076.2:c.3071-20_3071-16del MANE Select ENSP00000497653.1:n.3071-20_3071-16del
ENST00000353479.9:c.3071-20_3071-16del ENSP00000340937.5:n.3071-20_3071-16del
ENST00000369733.7:c.2936-20_2936-16del ENSP00000358748.3:n.2936-20_2936-16del
NM_000494.3:c.3071-20_3071-16del NP_000485.3:n.3071-20_3071-16del
NM_000494.4:c.3071-20_3071-16del MANE Select NP_000485.3:n.3071-20_3071-16del
Search 100 bp 5'
Search 100 bp 3'