Canonical Allele Identifier: CA2610797589

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104052940-AACAGAGACAGAGTGAAGGAGGGACGGGTGTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104052948_104052979del , CM000672.2:g.104052948_104052979del	GRCh38
NC_000010.10:g.105812706_105812737del , CM000672.1:g.105812706_105812737del	GRCh37
NC_000010.9:g.105802696_105802727del	NCBI36
NG_007069.1:g.37909_37940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.1939+59_1939+90del	ENSP00000358748.3:n.1939+59_1939+90del
ENST00000648076.2:c.1939+59_1939+90del MANE Select	ENSP00000497653.1:n.1939+59_1939+90del
ENST00000353479.9:c.1939+59_1939+90del	ENSP00000340937.5:n.1939+59_1939+90del
ENST00000369733.7:c.1939+59_1939+90del	ENSP00000358748.3:n.1939+59_1939+90del
NM_000494.3:c.1939+59_1939+90del	NP_000485.3:n.1939+59_1939+90del
NM_000494.4:c.1939+59_1939+90del MANE Select	NP_000485.3:n.1939+59_1939+90del